Materiały źródłowe

• #1 Tuberous Sclerosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17586-tuberous-sclerosis

  Tuberous sclerosis complex (TSC) is a rare genetic disease that causes noncancerous tumors to grow throughout your body. This condition, sometimes known simply as tuberous sclerosis, can affect people in many ways. People with less severe cases may see very few effects and have a normal lifespan. Severe cases can lead to serious complications. […] TSC is a disease that may progress slowly. Some symptoms may begin early in life, but it may take years for others to appear. People with this condition will need to see a healthcare provider regularly throughout their life to monitor this condition. […] The symptoms of tuberous sclerosis can vary greatly depending on the organs or body parts affected. Symptoms tend to fall under the following categories: Brain-related symptoms, Skin-related symptoms, Changes elsewhere inside of your body.

• #2 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. […] The physical manifestations of TSC are due to the formation of hamartia (malformed tissue such as the cortical tubers), hamartomas (benign growths such as facial angiofibroma and subependymal nodules), and very rarely, cancerous hamartoblastomas. The effect of these on the brain leads to neurological symptoms such as seizures, intellectual disability, developmental delay, and behavioral problems.

• #3 Tuberous sclerosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/symptoms-causes/syc-20365969

  Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs. But any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the growths. […] Although symptoms are different for each person with tuberous sclerosis, they can include: […] Seizures. Growths in the brain may be linked with seizures. A seizure is often the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm involves stiffening of the arms and legs and arching the back and head. […] Problems in thinking, reasoning and learning. Tuberous sclerosis can result in developmental delays. Sometimes it limits the ability to think, reason and learn. Mental health conditions, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.

• #4 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a genetic, life-long condition that causes lesions and benign tumors in your organs (mainly the brain, eyes, heart, kidney, skin and lungs). These lesions and tumors grow because your body’s cells reproduce when they shouldnt. The tumors may have been present when you were born or may develop at any time throughout your life. […] Although the tumors aren’t cancer, they can still cause problems throughout your body. […] Symptoms can start appearing at any time, including at birth. The symptoms you experience entirely depend on where the lesions or tumors appear, how many you have and their size. Tuberous sclerosis symptoms include: […] Brain: Seizures or epilepsy, Headache, Nausea, Vomiting, Difficulty with movement (increased clumsiness, difficulty walking, etc.), Changes in behavior, Developmental delays, Visual problems (also seen when there are tumors in the eyes), Autism spectrum disorder.

• #5

  https://www.nhs.uk/conditions/tuberous-sclerosis/symptoms/

  Tuberous sclerosis causes non-cancerous (benign) tumours to develop in many areas of the body. The condition can lead to a range of different problems depending on where the tumours grow. […] Problems caused by these tumours can develop at any age, but most often start early in childhood. The severity of these problems can vary significantly, and some tumours cause no noticeable problems. […] Most people with tuberous sclerosis will have epilepsy and experience repeated seizures (fits). […] Some young children experience a more serious condition, known as infantile spasms, where they have lots of seizures over a short space of time and brain activity is abnormal all the time. […] Infantile spasms tend to disappear as a child gets older but, by then, they may have led to some degree of permanent brain damage, which can cause problems such as moderate to severe intellectual disability, epilepsy that does not respond to medication, and autism.

• #6 Symptoms | Tuberous Sclerosis Center | Washington University in St. Louis

  https://tuberoussclerosiscenter.wustl.edu/about-tsc/symptoms/

  The symptoms of tuberous sclerosis complex (TSC) can be extremely variable, with some patients experiencing no significant problems at all, and others having serious, life-threatening complications. The diagnosis of TSC generally requires evidence of at least two of the major types of typical tumors or lesions characteristic of this disease. […] TSC symptoms include: […] Neurological symptoms are common among many people with TSC and may include epilepsy, learning disabilities, developmental delays and behavioral problems and/or autism. […] Epilepsy is very common in TSC, with some studies estimating that ~80-90% of patients with TSC will develop seizures. […] While the epilepsy in some patients with TSC can be controlled with medication, unfortunately many patients with TSC have poorly-controlled seizures.

• #7 Tuberous sclerosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/symptoms-causes/syc-20365969

  Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs. But any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the growths. […] Although symptoms are different for each person with tuberous sclerosis, they can include: […] Seizures. Growths in the brain may be linked with seizures. A seizure is often the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm involves stiffening of the arms and legs and arching the back and head. […] Problems in thinking, reasoning and learning. Tuberous sclerosis can result in developmental delays. Sometimes it limits the ability to think, reason and learn. Mental health conditions, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.

• #8 Tuberous Sclerosis (TSC) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/tuberous-sclerosis

  Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare genetic condition in which benign (noncancerous) tumors grow in the brain and other vital organs. […] The condition varies in severity depending on the location of the tumors. More severe symptoms may occur when the tumors affect the normal function of a body organ. […] Your child’s symptoms may be very subtle in the beginning. Seizures and/or white patches on the skin are often the first signs of the condition. […] Nearly all children with tuberous sclerosis will have some issues with the brain. Roughly 80-90% of children with tuberous sclerosis have epilepsy or experience generalized or partial seizures. […] Infantile spasms occur in about a third of children and most often occur when a child is between three and ten months old.

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• #11 Symptoms | Tuberous Sclerosis Center | Washington University in St. Louis

  https://tuberoussclerosiscenter.wustl.edu/about-tsc/symptoms/

  TSC patients are also at risk for cognitive or learning problems, perhaps occurring in about 50% of patients and ranging from mild learning disabilities and attention problems to severe mental retardation, as well as delays in motor skills. […] Behavioral problems and autism represent another disabling neurological manifestation that can occur in a significant proportion of patients with TSC. […] The neurological manifestations of TSC may be related to various abnormal lesions or growths in the brain including tubers, subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs). […] Although the terminology can be confusing, tubers tend not to grow like tumors typically do; however, it is believed that the disruption of the normal brain by tubers most likely causes the seizures, and possibly contributes to the cognitive problems and autism in patients with TSC.

• #12 Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment

  https://www.mdpi.com/1422-0067/22/13/6677

  The mammalian target of the rapamycin (mTOR) system plays multiple, important roles in the brain, regulating both morphology, such as cellular size, shape, and position, and function, such as learning, memory, and social interaction. Tuberous sclerosis complex (TSC) is a congenital disorder caused by a defective suppressor of the mTOR system, the TSC1/TSC2 complex. Almost all brain symptoms of TSC are manifestations of an excessive activity of the mTOR system. Many children with TSC are afflicted by intractable epilepsy, intellectual disability, and/or autism. […] Many (about 80%) TSC patients have epileptic seizures of variable types. Typical clinical pictures are West syndrome (infantile spasms) in infancy, and focal epilepsy, which may occur in any age group. In the vast majority of patients, the epileptic focus is located in or adjacent to a cortical tuber (focal dysplasia of the cerebral cortex). Epilepsy is often resistant to antiepileptic drugs, requiring neurosurgical treatment in many cases.

• #13 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis can cause seizures, delayed development, intellectual impairment and mental health challenges. […] The symptoms of tuberous sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected. Symptoms may include: delayed development, learning difficulties, epilepsy, autism, hyperactive tendencies, sleeping difficulties. […] TSC can affect the brain in a variety of ways, including: epilepsy around 80 per cent of people with tuberous sclerosis have seizures or fits. […] developmental delay depending on the severity of the condition, the child may not reach expected milestones within the normal age range. […] intellectual disability depending on the severity, some children may have normal intellectual function, or mild to severe intellectual disability. […] autism spectrum disorder (ASD) typical behaviours associated with autism include the tendency to avoid eye contact, and problems with communication and social development. […] mental health issues many people with TSC experience anxiety disorders and depression.

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• #15 Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment

  https://www.mdpi.com/1422-0067/22/13/6677

  Most TSC patients have a variety of behavioral, cognitive, and/or psychiatric problems, collectively termed as TAND. ID and ASD are the most common, affecting about 80% and 40% of patients, respectively. Notably, the distribution of intelligence quotient (IQ) is bimodal, dividing patients into two groups: profound ID with IQ (less than 30), and normal/subnormal mentality with a slight reduction in average IQ (around 90). […] In TSC-associated epilepsy, the epileptic focus is usually located within or adjacent to a cortical tuber. […] The interaction of both cell types may account for the epileptogenicity of cortical tubers. […] Recent advances in the studies of TSC have provided clinicians with candidates for robust therapeutic measures to escape from the vicious cycle, such as vigabatrin, mTOR inhibitors, and epilepsy surgery. Further progress in clinical and basic research is needed to significantly improve the neurological outcome and quality of life of infants and children with TSC-associated epilepsy.

• #16 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  The clinical presentation of TSC is highly variable, and manifestations will continue developing over a patients lifetime. Central nervous system manifestations are common. As noted above, seizures are present in up to 90% of patients with TSC, usually presenting before age 3. […] Neuropsychiatric manifestations are present in up to 90% of patients with TSC, including intellectual disability, behavioral difficulties, attention deficit hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorders. […] Skin manifestations are very common, and various skin manifestations are included in the major criteria for diagnosing tuberous sclerosis. Facial angiofibromas present in 75% of patients. […] Hypomelanotic macules are the most common dermatological manifestation, present in approximately 90% of patients as lighter patches of skin (ie, ash leaf or confetti lesions).

• #17 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis can cause seizures, delayed development, intellectual impairment and mental health challenges. […] The symptoms of tuberous sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected. Symptoms may include: delayed development, learning difficulties, epilepsy, autism, hyperactive tendencies, sleeping difficulties. […] TSC can affect the brain in a variety of ways, including: epilepsy around 80 per cent of people with tuberous sclerosis have seizures or fits. […] developmental delay depending on the severity of the condition, the child may not reach expected milestones within the normal age range. […] intellectual disability depending on the severity, some children may have normal intellectual function, or mild to severe intellectual disability. […] autism spectrum disorder (ASD) typical behaviours associated with autism include the tendency to avoid eye contact, and problems with communication and social development. […] mental health issues many people with TSC experience anxiety disorders and depression.

• #18 Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review

  https://www.psychiatrist.com/pcc/neuropsychiatric-manifestations-tuberous-sclerosis-management-options-narrative-review/

  Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organ systems and causes a wide range of physical manifestations. It commonly involves the brain, skin, heart, eyes, kidneys, and lungs. Individuals mostly present with neuropsychiatric symptoms, comprising a noteworthy source of morbidity and mortality. […] Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability, which are typically underidentified and undertreated. […] Around 90% of patients with TSC are impacted by neuropsychiatric symptoms. These disorders/symptoms are often grouped under the umbrella term tuberous sclerosis-associated neuropsychiatric disorders (TAND). Despite the high prevalence of neuropsychiatric manifestations, they are often missed and hence undertreated.

• #19 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  About 90% of people with TSC develop a range of neurodevelopmental, behavioural, psychiatric, and psychosocial difficulties. […] Behavioural problems most commonly seen include overactivity, impulsivity and sleeping difficulties. Also common are anxiety, mood swings, and severe aggression. […] The intellectual ability of people with TSC varies enormously. About 40-50% have a normal IQ. […] The prognosis for individuals with TSC depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities and epilepsy to severe intellectual disability, uncontrollable seizures, and kidney failure. Those individuals with mild symptoms generally do well and live long, productive lives, while individuals with the more severe form may have serious disabilities. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy. […] Leading causes of death include renal disease, brain tumour, lymphangioleiomyomatosis of the lung, and status epilepticus or bronchopneumonia in those with severe intellectual disability.

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• #21 Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review

  https://www.psychiatrist.com/pcc/neuropsychiatric-manifestations-tuberous-sclerosis-management-options-narrative-review/

  Individuals with TSC seek medical care mainly due to seizures, aggressiveness, social behavior, and self-harming behavior. […] Seizures are the most common neurologic sign in TSC. They occur in around 70%90% of individuals, mostly within the first 3 years of life. […] About 90% of children with TSC have TAND. […] At the behavioral level, symptoms are aggressiveness, temper outburst, anxiety, sad mood, injury to self, inattention, impaired social interaction, and difficulty in sleep pattern. […] On average, 40%50% of young children with TSC have autism spectrum disorder, and 30%50% have attention-deficit/hyperactivity disorder (ADHD); 50%60% of individuals with TSC have associated intellectual disability. […] These neuropsychiatric manifestations are often underidentified. […] The identification of biomarkers specific to disease progression and management is needed. Further research into the neurobiology and genetic basis of TSC will allow for better understanding of the mechanism of associated epileptogenesis, intellectual disability, autism symptoms, and other neuropsychiatric conditions. An individualized, multifaceted perspective with particular attention to cognitive and psychosocial comorbidities is key to managing this disorder. Treatment of the neuropsychiatric aspects of TSC poses great challenges to patients, doctors, and caregivers.

• #22 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis can cause seizures, delayed development, intellectual impairment and mental health challenges. […] The symptoms of tuberous sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected. Symptoms may include: delayed development, learning difficulties, epilepsy, autism, hyperactive tendencies, sleeping difficulties. […] TSC can affect the brain in a variety of ways, including: epilepsy around 80 per cent of people with tuberous sclerosis have seizures or fits. […] developmental delay depending on the severity of the condition, the child may not reach expected milestones within the normal age range. […] intellectual disability depending on the severity, some children may have normal intellectual function, or mild to severe intellectual disability. […] autism spectrum disorder (ASD) typical behaviours associated with autism include the tendency to avoid eye contact, and problems with communication and social development. […] mental health issues many people with TSC experience anxiety disorders and depression.

• #23 Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review

  https://www.psychiatrist.com/pcc/neuropsychiatric-manifestations-tuberous-sclerosis-management-options-narrative-review/

  Individuals with TSC seek medical care mainly due to seizures, aggressiveness, social behavior, and self-harming behavior. […] Seizures are the most common neurologic sign in TSC. They occur in around 70%90% of individuals, mostly within the first 3 years of life. […] About 90% of children with TSC have TAND. […] At the behavioral level, symptoms are aggressiveness, temper outburst, anxiety, sad mood, injury to self, inattention, impaired social interaction, and difficulty in sleep pattern. […] On average, 40%50% of young children with TSC have autism spectrum disorder, and 30%50% have attention-deficit/hyperactivity disorder (ADHD); 50%60% of individuals with TSC have associated intellectual disability. […] These neuropsychiatric manifestations are often underidentified. […] The identification of biomarkers specific to disease progression and management is needed. Further research into the neurobiology and genetic basis of TSC will allow for better understanding of the mechanism of associated epileptogenesis, intellectual disability, autism symptoms, and other neuropsychiatric conditions. An individualized, multifaceted perspective with particular attention to cognitive and psychosocial comorbidities is key to managing this disorder. Treatment of the neuropsychiatric aspects of TSC poses great challenges to patients, doctors, and caregivers.

• #24 tuberous sclerosis symptoms

  https://www.medicalnewstoday.com/articles/tuberous-sclerosis-symptoms

  Tuberous sclerosis, or tuberous sclerosis complex (TSC), causes noncancerous tumor growth. Symptoms vary but may include behavioral issues, kidney disease, and skin problems. […] The symptoms of tuberous sclerosis help determine a persons outlook. For example, more severe symptoms may indicate that the disease has progressed. […] Most people with tuberous sclerosis have a normal life expectancy. However, the individual outlook varies greatly, and there is no cure. Tumors affecting the brain and spinal cord can cause serious complications. […] TSC symptoms vary significantly. […] It is estimated that more than 90% of adults and children with TSC experience emotional, behavioral, or developmental issues, but just 20% receive treatment for these issues. […] About 80% of children with TSC have at least one kidney lesion by the average age of 10 and a half. Kidney disease is the second leading cause of TSC-related death.

• #25 What Are the Signs and Symptoms of Tuberous Sclerosis Complex? : Homage Australia

  https://www.homage.com.au/resources/tuberous-sclerosis/

  The skin is the most commonly affected organ in individuals with tuberous sclerosis. Almost everyone with tuberous sclerosis will experience at least one symptom relating to their skin. Signs and symptoms in the skin are often the first sign that a person may have tuberous sclerosis. […] The brain is one of the more commonly affected organs in individuals with tuberous sclerosis. Most individuals diagnosed with tuberous sclerosis have at least some signs of TSC in the brain. These impacts can range from very mild to very severe. […] About half of all people with tuberous sclerosis have some signs or symptoms in their eyes. Vision loss is not a common side effect of tuberous sclerosis, but other impacts on the eyes are common. […] Tuberous sclerosis leads to the growth of at least one tumour in the heart in around 50% of cases. These non-cancerous growths are known as cardiac rhabdomyoma and usually do not create any specific symptoms.

• #26 Tuberous Sclerosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17586-tuberous-sclerosis

  Brain-related symptoms happen when TSC causes tumors or cortical tubers (hamartomas) to grow in your brain. These tumors aren’t cancerous but can still damage or disrupt your brain function. […] While seizures and mental disabilities are common with TSC, not everyone with this condition will have them. Its also possible to have TSC with seizures but without mental disabilities. […] Skin-related symptoms are often the earliest indicator that you have TSC. Experts estimate that 90% of people with TSC have one or more of the following: Ash leaf spots, Confetti marks, Facial fibromas, Fingernail and toenail fibromas, Shagreen patches. […] The growths that happen with TSC, either tumors or cysts, can happen in many other places throughout your body. Some other changes can happen, too. […] Tuberous sclerosis isn’t curable, but it’s often treatable. The treatment approaches usually depend on the types of symptoms.

• #27 Tuberous sclerosis complex: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex/

  Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart (cardiac rhabdomyoma) and the light-sensitive tissue at the back of the eye (the retina). Some women with tuberous sclerosis complex develop lymphangioleiomyomatosis (LAM), which is a lung disease characterized by the abnormal overgrowth of smooth muscle-like tissue in the lungs that causes coughing, shortness of breath, chest pain, and lung collapse. […] Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Sometimes, affected individuals have areas of bone or dental damage.

• #28 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Heart: Palpitations, Chest pain, Abnormal heart rhythm, Congestive heart failure, Blueish skin color (from reduced blood flow). […] Kidneys: Increased blood pressure, Problems with kidney functioning or kidney failure. […] Eyes: Visual problems, Changes to the color of parts of the retina. […] Skin: Patchy loss of skin color, which may be large and shaped like an oval (ash leaf spots”) or may be very small (confetti spots), Small bumps or larger bumpy patches, particularly on the face and head (angiofibromas, fibrous plaques), Skin tags, Large areas of rough skin, particularly on the back, sides and abdomen (shagreen patch), Grooves, raised areas and other nail abnormalities (ungual fibromas), Bumps on your gums (gingival fibromas) or pits in your teeth. […] Lungs: Shortness of breath, Painful breathing.

• #29 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  The clinical presentation of TSC is highly variable, and manifestations will continue developing over a patients lifetime. Central nervous system manifestations are common. As noted above, seizures are present in up to 90% of patients with TSC, usually presenting before age 3. […] Neuropsychiatric manifestations are present in up to 90% of patients with TSC, including intellectual disability, behavioral difficulties, attention deficit hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorders. […] Skin manifestations are very common, and various skin manifestations are included in the major criteria for diagnosing tuberous sclerosis. Facial angiofibromas present in 75% of patients. […] Hypomelanotic macules are the most common dermatological manifestation, present in approximately 90% of patients as lighter patches of skin (ie, ash leaf or confetti lesions).

• #30 Tuberous sclerosis complex — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tuberous-sclerosis-complex/

  TSC presents with different features at different ages. […] Cardiac symptoms: antenatal scans can identify rhabdomyomas, which typically regress in late pregnancy or early infancy (if multiple rhabdomyomas are identified, the likelihood of the diagnosis being TSC approaches 100%; if only one is identified, the chance that TSC is the cause falls to around 50%). […] Neurological symptoms: focal cortical dysplasias (cortical tubers) may be identified on fetal brain imaging after 20 weeks of pregnancy. […] Skin features: hypomelanotic macules (sometimes called ash leaf macules); and confetti skin lesions. […] Neurological symptoms: focal cortical dysplasias (cortical tubers); subependymal nodules; and infantile spasms. […] the following features begin to develop in childhood, and become more prevalent with age: angiofibromas (typically over the cheeks and nose); fibrous cephalic plaques (typically of the forehead); ungual fibromas; and shagreen patches.

• #31 Orphanet: Tuberous sclerosis complex

  https://www.orpha.net/en/disease/detail/805

  A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders. […] Skin involvement is almost constantly present, beginning as hypomelanotic macules in the first years of life and evolving to facial angiofibromas by 3-4 years, followed by ungual fibromas, cephalic and lumbar (shagreen patch) fibrous plaques, and ”confetti” skin lesions appearing in childhood to early adolescence. […] Early-onset epilepsy (focal seizures and/or infantile spasms) is present in 85% of patients. […] Renal angiomyolipomas (AML) develop during childhood with a higher risk of growth during adolescence and adulthood and manifest by pain, hematuria/retroperitoneal hemorrhage, abdominal masses, hypertension and renal failure.

• #32 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of benign tumors in various organs of the body, including the brain, skin, kidneys, heart, lungs, and eyes. These tumors, known as hamartomas, can lead to a wide range of symptoms and complications, such as seizures, developmental delays, intellectual disabilities, skin abnormalities, and kidney problems. TSC affects individuals differently, with some experiencing mild symptoms while others face more severe manifestations. […] TSC is usually diagnosed in childhood or infancy, and the affected individuals may present with developmental delay, skin manifestations, or seizures. However, it may also be diagnosed earlier or later based on various clinical manifestations. […] The presentation of the disease will vary depending on the individual’s developmental stage. While skin lesions are detected in 90% of patients of all ages, hypopigmented macules are usually found in early childhood. Ungual fibromas appear near puberty, and facial angiofibromas are more common in adolescence.

• #33 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #34 Tuberous sclerosis complex | MedLink Neurology

  https://www.medlink.com/handouts/tuberous-sclerosis

  Skin abnormalities vary widely in individuals with TSC. Most cause no problems but are helpful in diagnosis. Some cases may cause disfigurement, necessitating treatment. […] Kidney problems such as cysts and angiomyolipomas (benign growths of fatty tissue and muscle cells) occur in an estimated 70 to 80 percent of individuals with TSC. They usually occur between ages 15 and 30. […] Lung lesions are present in about one-third of adult women with TSC and are much less commonly seen in men. Lung lesions include lymphangioleiomyomatosis (LAM) and multinodular multifocal pneumocyte hyperplasia (MMPH). LAM is a tumor-like disorder in which cells proliferate in the lungs, and there is lung destruction with cyst formation. A range of symptoms can occur with LAM, with many TSC individuals having no symptoms, while others suffer with breathlessness, which can progress and be severe. MMPH is a more benign tumor that occurs in men and women equally.

• #35 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #36 Tuberous Sclerosis Complex Clinical Presentation: History, Physical, Complications

  https://emedicine.medscape.com/article/1177711-clinical

  Renal manifestations of TSC are the second most common clinical feature. Four types of lesions can occur: autosomal-dominant polycystic kidney disease, isolated renal cyst(s), AMLs, and renal cell carcinoma. […] Rhabdomyomas develop during intrauterine life (usually between weeks 22 and 26 of gestation) and can result in nonimmune hydrops fetalis and fetal death. The majority of cases, however, are clinically asymptomatic. […] Symptoms can result from local irritation, such as that created by shoes, dentures, shaving, and disruption of the nail bed.

• #37 Orphanet: Tuberous sclerosis complex

  https://www.orpha.net/en/disease/detail/805

  A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders. […] Skin involvement is almost constantly present, beginning as hypomelanotic macules in the first years of life and evolving to facial angiofibromas by 3-4 years, followed by ungual fibromas, cephalic and lumbar (shagreen patch) fibrous plaques, and ”confetti” skin lesions appearing in childhood to early adolescence. […] Early-onset epilepsy (focal seizures and/or infantile spasms) is present in 85% of patients. […] Renal angiomyolipomas (AML) develop during childhood with a higher risk of growth during adolescence and adulthood and manifest by pain, hematuria/retroperitoneal hemorrhage, abdominal masses, hypertension and renal failure.

• #38 Tuberous Sclerosis Complex (TSC): ERKNet dla Pacjentów

  https://www.erknet.org/patients/pl/your-kidney-disease/tsc/disease-information

  There is a strong relationship between autism spectrum disorder and TSC. Many children with TSC develop autism spectrum disorder. […] Cysts and Angiomyolipomas are benign growths of fatty tissue and muscle cells) occur in an estimated 70 to 80 percent of individuals with TSC. They usually occur between ages 15 and 30. […] A very small percent of individuals with TSC develop large numbers of cysts during childhood, which may lead to hypertension, proteinuria and kidney failure. […] Angiomyolipomas are the most common kidney lesions in TSC and can be found in people without TSC. Angiomyolipomas caused by TSC are usually found in both kidneys and in most cases do not produce symptoms. However, they can sometimes grow so large that they cause pain or kidney failure. […] Regular follow-up with a team of specialists, including neurologists, dermatologists, nephrologists, and other relevant specialists, is essential to provide comprehensive care and monitor the progression of the disease. Early intervention and ongoing management can help improve the overall quality of life for individuals with TSC.

• #39 Tuberous sclerosis complex — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tuberous-sclerosis-complex/

  Renal symptoms: angiomyolipomas (50%60% of cases; increase in prevalence with age); and cysts (if early onset renal cystic disease is present along with other features, consider a contiguous gene deletion involving TSC2 and ADPKD1). […] Neurological symptoms: subependymal giant cell astrocytomas (SEGA) (can cause hydrocephalus); epilepsy (present in 80% of patients with a variety of seizure types; some are refractory to treatment); developmental delay and intellectual disability (more common in those with epilepsy; less than 50% of patients have a normal IQ); and tuberous sclerosis-associated neuropsychiatric disorder (TAND), which includes: autism spectrum disorder (25%60% of cases); attention deficit hyperactivity disorder; and anxiety disorder. […] Neurological symptoms: TAND: hyperactivity and impulsivity; aggression and self-harm; anxiety; depression; and sleep conditions. […] Renal symptoms: renal cell carcinoma (2%4% of cases; increases in prevalence with age).

• #40 Symptoms | Tuberous Sclerosis Center | Washington University in St. Louis

  https://tuberoussclerosiscenter.wustl.edu/about-tsc/symptoms/

  When growth of SEGAs obstructs the flow of spinal fluid through the ventricles, this can sometimes lead to a more emergent situation due to pressure build-up in the brain, often presenting with progressive lethargy, behavioral changes, headache, or vomiting. […] Skin involvement is common as a more obvious symptom of TSC. […] While most tumors in TSC usually do not spread (metastasize), behave aggressively, or become cancerous, tumor growth can still sometimes cause serious symptoms and involve organs such as the heart, kidney, lung and eye. […] Heart involvement, when significant, usually affects infants and can cause abnormal heart rhythms (arrhythmias) or symptoms of heart failure. […] As patients with TSC get older, growth of kidney tumors called renal angiomyolipomas can start to cause problems with hypertension and bleeding, and rarely can become cancerous. […] If this lung involvement progresses, there can be significant compromise of respiratory function, with cough, shortness of breath, and pnemothorax.

• #41 Tuberous Sclerosis: Symptoms, Treatments, and Outlook

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/tuberous-sclerosis

  Kidney-related symptoms can include: malfunctioning kidney, blood in the urine, sudden, extreme pain in the abdomen, high blood pressure, kidney failure, kidney cancer. […] Tuberous sclerosis tumors in the heart can be present at birth and will shrink as the child grows. However, in rare cases, these tumors may be large enough to cause irregular heart rhythm or heart failure. […] Many people with tuberous sclerosis develop benign tumors within the eye’s retina or at the optic nerve. Any vision changes depend on the location of the tumors. […] People with tuberous sclerosis can develop benign lung tumors. Tumors that grow large enough to compress nearby healthy lung tissue can cause breathing difficulties. […] The outlook for people with tubular sclerosis varies depending on the severity of symptoms. Some cases are mild, and symptoms may never appear or become problematic. Many people with tuberous sclerosis live long and productive lives. In other situations, the condition may be life threatening.

• #42 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Renal angiomyolipomas may manifest in 55% to 75% of patients. Incidence increases with age, and a longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years. […] The prognosis for TSC includes the following: Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. The morbidity of TSC is quite significant for patients and caregivers. In addition, mortality is significantly higher than in patients without TSC, and various long-term studies report mortality at 4.8% to 8.3% at a follow-up range of 8 to 17.4 years. […] Mortality is most often caused by complications of seizures or renal angiomyolipomas.

• #43 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #44 Tuberous Sclerosis (TSC) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/tuberous-sclerosis

  Tuberous sclerosis was named after a commonly associated brain lesion, called a cortical tuber. These non-cancer (benign) lesions usually form on the outside surface of the brain. […] Brain lesions grow in roughly 20% of patients. Depending on the location, they may block the flow of fluid in the brain. As fluid builds up, a child may have headaches and vision problems. […] Your child may have white patches on the face, body or fingernails, most of which are present at birth. […] Lesions caused by TSC in the kidney are very common and may cause a change in kidney function. […] The majority of children with TSC are born with benign heart tumors (cardiac rhabdomyomas). […] About half of all children with TSC will have retinal (eye) lesions, which may present as inflammation of the retina or benign tumors.

• #45 Tuberous Sclerosis Complex Clinical Presentation: History, Physical, Complications

  https://emedicine.medscape.com/article/1177711-clinical

  Pulmonary involvement typically occurs in the second or third decade, with dyspnea, pneumothorax, or chylothorax. It often is misdiagnosed as emphysema, particularly in those with a history of smoking. […] The generally benign SENs can degenerate into SEGAs in 5-10% of cases. SEGAs can grow, often in an extremely indolent fashion, resulting in ventricular obstruction and hydrocephalus. Since this process occurs very gradually, patients may have marked hydrocephalus when they finally become symptomatic. […] Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy. Fifty to sixty percent of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Symptomatic pulmonary involvement occurs almost exclusively in adult women, generally aged 30 or older.

• #46 Tuberous Sclerosis Complex – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/neurocutaneous-syndromes-in-children/tuberous-sclerosis-complex

  Tuberous sclerosis may affect the brain and cause seizures, intellectual disability, autism, delayed development of motor or language skills, learning disorders, and behavioral problems (such as hyperactivity and aggression). […] The first symptom of tuberous sclerosis complex may be infantile spasms, a type of seizure. […] Symptoms of tuberous sclerosis complex vary greatly in severity. […] Before birth, benign heart tumors called rhabdomyomas may develop. Sometimes these tumors cause heart failure in newborns. These tumors typically disappear over time and do not cause symptoms later in childhood or in adulthood. […] Tubers in the brain may become tumors, which sometimes become cancerous, and enlarge, causing headaches or making other symptoms worse. […] During adulthood, cancerous kidney tumors may develop, and polycystic kidney disease may develop at any age. These disorders may cause high blood pressure, abdominal pain, and blood in the urine.

• #47 Tuberous Sclerosis Complex Clinical Presentation: History, Physical, Complications

  https://emedicine.medscape.com/article/1177711-clinical

  Pulmonary involvement typically occurs in the second or third decade, with dyspnea, pneumothorax, or chylothorax. It often is misdiagnosed as emphysema, particularly in those with a history of smoking. […] The generally benign SENs can degenerate into SEGAs in 5-10% of cases. SEGAs can grow, often in an extremely indolent fashion, resulting in ventricular obstruction and hydrocephalus. Since this process occurs very gradually, patients may have marked hydrocephalus when they finally become symptomatic. […] Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy. Fifty to sixty percent of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Symptomatic pulmonary involvement occurs almost exclusively in adult women, generally aged 30 or older.

• #48 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Heart: Palpitations, Chest pain, Abnormal heart rhythm, Congestive heart failure, Blueish skin color (from reduced blood flow). […] Kidneys: Increased blood pressure, Problems with kidney functioning or kidney failure. […] Eyes: Visual problems, Changes to the color of parts of the retina. […] Skin: Patchy loss of skin color, which may be large and shaped like an oval (ash leaf spots”) or may be very small (confetti spots), Small bumps or larger bumpy patches, particularly on the face and head (angiofibromas, fibrous plaques), Skin tags, Large areas of rough skin, particularly on the back, sides and abdomen (shagreen patch), Grooves, raised areas and other nail abnormalities (ungual fibromas), Bumps on your gums (gingival fibromas) or pits in your teeth. […] Lungs: Shortness of breath, Painful breathing.

• #49 Tuberous Sclerosis Diagnosis, Symptoms, and Treatment

  https://www.webmd.com/children/tuberous-sclerosis

  Symptoms usually show up early, shortly after birth. But they can also appear later in life. […] Your symptoms depend on how many tumors you have, how big they are, and where they are. When you have TSC, all of that can change throughout your life. […] Tumors in a kidney can stop it from working like it should. They can also cause bleeding inside your body or high blood pressure. […] Tumors in your heart usually happen when you’re young, and they shrink over time. But they can block blood flow or cause problems with your heart rhythm. […] Lung tumors can make you short of breath, even after mild exercise. They can also cause a cough or make your lung collapse. […] Tumors in your brain could cause: Seizures, which can be mild at first, Behavior changes, such as temper tantrums, anxiety, or sleep problems, Nausea or headaches, Problems such as autism and developmental delays.

• #50 Tuberous sclerosis complex — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tuberous-sclerosis-complex/

  TSC presents with different features at different ages. […] Cardiac symptoms: antenatal scans can identify rhabdomyomas, which typically regress in late pregnancy or early infancy (if multiple rhabdomyomas are identified, the likelihood of the diagnosis being TSC approaches 100%; if only one is identified, the chance that TSC is the cause falls to around 50%). […] Neurological symptoms: focal cortical dysplasias (cortical tubers) may be identified on fetal brain imaging after 20 weeks of pregnancy. […] Skin features: hypomelanotic macules (sometimes called ash leaf macules); and confetti skin lesions. […] Neurological symptoms: focal cortical dysplasias (cortical tubers); subependymal nodules; and infantile spasms. […] the following features begin to develop in childhood, and become more prevalent with age: angiofibromas (typically over the cheeks and nose); fibrous cephalic plaques (typically of the forehead); ungual fibromas; and shagreen patches.

• #51 Diagnosis – The Tuberous Sclerosis Association

  https://tuberous-sclerosis.org/information-and-support/diagnosis/

  The signs and symptoms of Tuberous Sclerosis Complex, and how it is diagnosed […] Common issues that might lead to a possible diagnosis of TSC include: The discovery of heart tumours in a child pre-birth or in newborns […] Seizures or ‘fits’ (known as ‘infantile spasms’) in newborns […] Specific skin markings or lesions (known as ‘ash leaf marks’), usually first present children and adolescents […] The onset of kidney problems in adults […] A diagnosis of TSC is not taken lightly and the clinician will only confirm that a person has TSC if they are sure, either through genetic testing or through a range of scans and examinations. […] Depending on the age of the diagnosed person and how TSC is (or may) affect them, a discussion about options to manage or treat symptoms of TSC may also occur.

• #52

  https://www.nhs.uk/conditions/tuberous-sclerosis/symptoms/

  Most people with tuberous sclerosis will have abnormal growths or patches on their skin. […] Most people with tuberous sclerosis will have multiple growths in their kidneys, including tumours and cysts (small fluid-filled sacs). […] Many children born with tuberous sclerosis will develop one or more tumours inside their heart. […] Most people with tuberous sclerosis will develop one or more tumours inside their eyes. […] At least 1 in every 3 women with tuberous sclerosis will develop tumours and cysts inside their lungs, usually between the ages of 20 and 40.

• #53 Tuberous Sclerosis Complex Clinical Presentation: History, Physical, Complications

  https://emedicine.medscape.com/article/1177711-clinical

  Pulmonary involvement typically occurs in the second or third decade, with dyspnea, pneumothorax, or chylothorax. It often is misdiagnosed as emphysema, particularly in those with a history of smoking. […] The generally benign SENs can degenerate into SEGAs in 5-10% of cases. SEGAs can grow, often in an extremely indolent fashion, resulting in ventricular obstruction and hydrocephalus. Since this process occurs very gradually, patients may have marked hydrocephalus when they finally become symptomatic. […] Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy. Fifty to sixty percent of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Symptomatic pulmonary involvement occurs almost exclusively in adult women, generally aged 30 or older.

• #54 Tuberous sclerosis complex | MedLink Neurology

  https://www.medlink.com/handouts/tuberous-sclerosis

  Skin abnormalities vary widely in individuals with TSC. Most cause no problems but are helpful in diagnosis. Some cases may cause disfigurement, necessitating treatment. […] Kidney problems such as cysts and angiomyolipomas (benign growths of fatty tissue and muscle cells) occur in an estimated 70 to 80 percent of individuals with TSC. They usually occur between ages 15 and 30. […] Lung lesions are present in about one-third of adult women with TSC and are much less commonly seen in men. Lung lesions include lymphangioleiomyomatosis (LAM) and multinodular multifocal pneumocyte hyperplasia (MMPH). LAM is a tumor-like disorder in which cells proliferate in the lungs, and there is lung destruction with cyst formation. A range of symptoms can occur with LAM, with many TSC individuals having no symptoms, while others suffer with breathlessness, which can progress and be severe. MMPH is a more benign tumor that occurs in men and women equally.

• #55 Tuberous Sclerosis Complex | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/tuberous-sclerosis-complex

• #56 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Heart: Palpitations, Chest pain, Abnormal heart rhythm, Congestive heart failure, Blueish skin color (from reduced blood flow). […] Kidneys: Increased blood pressure, Problems with kidney functioning or kidney failure. […] Eyes: Visual problems, Changes to the color of parts of the retina. […] Skin: Patchy loss of skin color, which may be large and shaped like an oval (ash leaf spots”) or may be very small (confetti spots), Small bumps or larger bumpy patches, particularly on the face and head (angiofibromas, fibrous plaques), Skin tags, Large areas of rough skin, particularly on the back, sides and abdomen (shagreen patch), Grooves, raised areas and other nail abnormalities (ungual fibromas), Bumps on your gums (gingival fibromas) or pits in your teeth. […] Lungs: Shortness of breath, Painful breathing.

• #57 Tubular Sclerosis Complex – Causes & Symptoms

  https://lonestarneurology.net/blog/tubular-sclerosis-complex/

  Tubular Sclerosis can cause tumors in the lungs. They may lead to breathing difficulties, coughing, or shortness of breath. Lung problems may more likely occur in individuals with a more severe form of the condition. […] The illness can cause heart tumors, leading to heart problems such as arrhythmias or heart failure. Other potential heart symptoms may include chest pain or palpitations. […] The condition can cause a range of behavioral and cognitive problems. They’re developmental delays, learning disabilities, and autism spectrum illnesses. Individuals may also experience anxiety, depression, or other mental health problems.

• #58 Tuberous sclerosis complex | MedLink Neurology

  https://www.medlink.com/handouts/tuberous-sclerosis

  Skin abnormalities vary widely in individuals with TSC. Most cause no problems but are helpful in diagnosis. Some cases may cause disfigurement, necessitating treatment. […] Kidney problems such as cysts and angiomyolipomas (benign growths of fatty tissue and muscle cells) occur in an estimated 70 to 80 percent of individuals with TSC. They usually occur between ages 15 and 30. […] Lung lesions are present in about one-third of adult women with TSC and are much less commonly seen in men. Lung lesions include lymphangioleiomyomatosis (LAM) and multinodular multifocal pneumocyte hyperplasia (MMPH). LAM is a tumor-like disorder in which cells proliferate in the lungs, and there is lung destruction with cyst formation. A range of symptoms can occur with LAM, with many TSC individuals having no symptoms, while others suffer with breathlessness, which can progress and be severe. MMPH is a more benign tumor that occurs in men and women equally.

• #59 Tuberous Sclerosis Complex | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/tuberous-sclerosis-complex

• #60 Tuberous Sclerosis (TSC) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/tuberous-sclerosis

  Tuberous sclerosis was named after a commonly associated brain lesion, called a cortical tuber. These non-cancer (benign) lesions usually form on the outside surface of the brain. […] Brain lesions grow in roughly 20% of patients. Depending on the location, they may block the flow of fluid in the brain. As fluid builds up, a child may have headaches and vision problems. […] Your child may have white patches on the face, body or fingernails, most of which are present at birth. […] Lesions caused by TSC in the kidney are very common and may cause a change in kidney function. […] The majority of children with TSC are born with benign heart tumors (cardiac rhabdomyomas). […] About half of all children with TSC will have retinal (eye) lesions, which may present as inflammation of the retina or benign tumors.

• #61 Tuberous Sclerosis Complex (TSC) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/tuberous-sclerosis-complex/

  Tuberous sclerosis complex affects the kidneys in more than 80% of people with the disorder at some point in their lives. […] About 50% of people with tuberous sclerosis complex have growths in the lining of the heart walls (cardiac rhabdomyomas). […] About 50% of children with TSC have tumors that affect the eye. […] Most people with tuberous sclerosis complex have many skin changes. […] Lung tumors can make it hard to breathe or may cause chest pain. They tend to grow during adulthood, not during childhood.

• #62 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Heart: Palpitations, Chest pain, Abnormal heart rhythm, Congestive heart failure, Blueish skin color (from reduced blood flow). […] Kidneys: Increased blood pressure, Problems with kidney functioning or kidney failure. […] Eyes: Visual problems, Changes to the color of parts of the retina. […] Skin: Patchy loss of skin color, which may be large and shaped like an oval (ash leaf spots”) or may be very small (confetti spots), Small bumps or larger bumpy patches, particularly on the face and head (angiofibromas, fibrous plaques), Skin tags, Large areas of rough skin, particularly on the back, sides and abdomen (shagreen patch), Grooves, raised areas and other nail abnormalities (ungual fibromas), Bumps on your gums (gingival fibromas) or pits in your teeth. […] Lungs: Shortness of breath, Painful breathing.

• #63 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Tuberous-Sclerosis-Symptoms.aspx

  About 75% of individuals with tuberous sclerosis report problems in kidney function due to benign cysts that affect the organ. […] In some cases, the cysts may be larger in size or develop in bountiful quantities, similarly to polycystic kidney disease. Kidney function can be severely compromised in these cases, thus increasing the risk of kidney failure. […] Infants with tuberous sclerosis are often found to have cardiac rhabdomyomas, which are typically detected before birth upon ultrasound examination of the prenatal fetus. […] Phakomas are benign tumors that can be found in the eyes of patients with tuberous sclerosis. […] Women with tuberous sclerosis are more likely to have lesions in the lungs as compared to men. […] There are various skin abnormalities that affect people with tuberous sclerosis, which may include: Hypomelanic macules white patches on the skin, Facial angiofibromas reddish bumps on face, Ungual fibromas fleshy tumors around or under nails.

• #64 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #65 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Heart: Palpitations, Chest pain, Abnormal heart rhythm, Congestive heart failure, Blueish skin color (from reduced blood flow). […] Kidneys: Increased blood pressure, Problems with kidney functioning or kidney failure. […] Eyes: Visual problems, Changes to the color of parts of the retina. […] Skin: Patchy loss of skin color, which may be large and shaped like an oval (ash leaf spots”) or may be very small (confetti spots), Small bumps or larger bumpy patches, particularly on the face and head (angiofibromas, fibrous plaques), Skin tags, Large areas of rough skin, particularly on the back, sides and abdomen (shagreen patch), Grooves, raised areas and other nail abnormalities (ungual fibromas), Bumps on your gums (gingival fibromas) or pits in your teeth. […] Lungs: Shortness of breath, Painful breathing.

• #66 Tuberous Sclerosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17586-tuberous-sclerosis

  Tuberous sclerosis complex (TSC) is a rare genetic disease that causes noncancerous tumors to grow throughout your body. This condition, sometimes known simply as tuberous sclerosis, can affect people in many ways. People with less severe cases may see very few effects and have a normal lifespan. Severe cases can lead to serious complications. […] TSC is a disease that may progress slowly. Some symptoms may begin early in life, but it may take years for others to appear. People with this condition will need to see a healthcare provider regularly throughout their life to monitor this condition. […] The symptoms of tuberous sclerosis can vary greatly depending on the organs or body parts affected. Symptoms tend to fall under the following categories: Brain-related symptoms, Skin-related symptoms, Changes elsewhere inside of your body.

• #67 Tuberous Sclerosis Complex (TSC) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tuberous-sclerosis-complex-tsc

  Over 80 percent of people with TSC have some type of kidney (renal) lesion. […] Most children with TSC live active, productive lives and have a normal life expectancy. Many of the complications associated with TSC can be managed effectively if caught and treated early. This makes it important for your child to be followed by a physician throughout his or her life. […] TSC can affect people in different ways at different times in their lives. Some of the symptoms may get better as your child grows. For example, epilepsy often resolves or is well-controlled, and heart tumors usually shrink or disappear completely as children get older. However, kidney or brain tumors can often grow into adulthood and they can sometimes cause serious problems that require treatment. TSC can affect individuals at any point in their lives, which makes it important for your child to be monitored closely throughout his or her life.

• #68 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of benign tumors in various organs of the body, including the brain, skin, kidneys, heart, lungs, and eyes. These tumors, known as hamartomas, can lead to a wide range of symptoms and complications, such as seizures, developmental delays, intellectual disabilities, skin abnormalities, and kidney problems. TSC affects individuals differently, with some experiencing mild symptoms while others face more severe manifestations. […] TSC is usually diagnosed in childhood or infancy, and the affected individuals may present with developmental delay, skin manifestations, or seizures. However, it may also be diagnosed earlier or later based on various clinical manifestations. […] The presentation of the disease will vary depending on the individual’s developmental stage. While skin lesions are detected in 90% of patients of all ages, hypopigmented macules are usually found in early childhood. Ungual fibromas appear near puberty, and facial angiofibromas are more common in adolescence.

• #69 Tuberous sclerosis complex — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tuberous-sclerosis-complex/

  TSC presents with different features at different ages. […] Cardiac symptoms: antenatal scans can identify rhabdomyomas, which typically regress in late pregnancy or early infancy (if multiple rhabdomyomas are identified, the likelihood of the diagnosis being TSC approaches 100%; if only one is identified, the chance that TSC is the cause falls to around 50%). […] Neurological symptoms: focal cortical dysplasias (cortical tubers) may be identified on fetal brain imaging after 20 weeks of pregnancy. […] Skin features: hypomelanotic macules (sometimes called ash leaf macules); and confetti skin lesions. […] Neurological symptoms: focal cortical dysplasias (cortical tubers); subependymal nodules; and infantile spasms. […] the following features begin to develop in childhood, and become more prevalent with age: angiofibromas (typically over the cheeks and nose); fibrous cephalic plaques (typically of the forehead); ungual fibromas; and shagreen patches.

• #70 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Tuberous-Sclerosis-Symptoms.aspx

  Tuberous sclerosis can cause various symptoms that depend greatly on which area of the body is affected by the related tumors. Each individual may note different signs of the condition that differ greatly in presentation and severity. […] The most commonly reported symptom of tuberous sclerosis is a change in the function of the brain as a result of benign tumors that affect this major organ. […] The majority of individuals affected by tuberous sclerosis will experience seizures at some point due to the presence of tumors in the brain. Various types of seizures can present, including tonic-clonic, tonic, akinetic, atypical absence, and myoclonic seizures. Infantile spasms are also common among infants with the condition and are often the first symptom to be noted. […] Approximately 60% of children with tuberous sclerosis have a developmental delay that can vary greatly in severity, from a mild learning disability to mental retardation. Some behavioral problems may also present, such as aggression, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-harming tendencies. About 1 in 3 of affected children meet the diagnostic criteria for autism spectrum disorder.

• #71 Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment

  https://www.mdpi.com/1422-0067/22/13/6677

  The level of intelligence is variable among patients, ranging from normal to profound ID. ID is present in more than half of patients, and ASD in about half. Even patients with normal intelligence have a variety of behavioral, cognitive, and psychosocial problems, which are collectively called TSC-associated neuropsychiatric disorders (TAND). […] Approximately 10% of patients have subependymal giant cell astrocytoma (SEGA), a benign tumor on the wall of the lateral ventricle. A large SEGA may cause hydrocephalus and clinical signs of increased intracranial pressure. Hydrocephaly is usually ascribed to the occlusion of the foramen of Monro, although the exact mechanism is still poorly understood. For the treatment of SEGA, the first choice is surgical resection of the tumor. Chemotherapy with an mTOR inhibitor, everolimus, is also efficacious, and has recently become another choice of therapy.

• #72 Orphanet: Tuberous sclerosis complex

  https://www.orpha.net/en/disease/detail/805

  Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia and pulmonary cysts develop during adulthood and manifest with dyspnea, pneumothorax, or chylothorax. […] Cardiac rhabdomyomas appear during the fetal period, are rarely symptomatic, and tend to decrease in size in early childhood. […] TSC is a chronic, life-long condition. As patients transition into adulthood, seizures may persist; renal and/or pulmonary issues may become more frequent and clinically significant.

• #73 Medical Science Monitor | Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation – Article abstract #16139

  https://medscimonit.com/abstract/index/idArt/16139

  Background:Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. […] Results:Epilepsy, depigmented spots, and periventricular calcification and cortical tubers were diagnosed in all the 4 patients, cardiac rhabdomyoma and angiomyolipoma of the kidneys in 3, and mental retardation and forehead fibroma in 2. Other symptoms occurred rarely or were absent. There was variability in TSC symptoms in patients with the identical type of TSC2 mutation. The main symptoms were present in all or in the majority of patients. Clinical picture also differed with the age of patient. […] Conclusions:There are many influencing factors contributing to the diversity of the clinical picture and pathology of TSC. Obviously, a greater number of cases are needed for further analysis and more precise conclusions.

• #74 Tuberous Sclerosis Complex (TSC) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tuberous-sclerosis-complex-tsc

  Over 80 percent of people with TSC have some type of kidney (renal) lesion. […] Most children with TSC live active, productive lives and have a normal life expectancy. Many of the complications associated with TSC can be managed effectively if caught and treated early. This makes it important for your child to be followed by a physician throughout his or her life. […] TSC can affect people in different ways at different times in their lives. Some of the symptoms may get better as your child grows. For example, epilepsy often resolves or is well-controlled, and heart tumors usually shrink or disappear completely as children get older. However, kidney or brain tumors can often grow into adulthood and they can sometimes cause serious problems that require treatment. TSC can affect individuals at any point in their lives, which makes it important for your child to be monitored closely throughout his or her life.

• #75 Tuberous Sclerosis Diagnosis, Symptoms, and Treatment

  https://www.webmd.com/children/tuberous-sclerosis

  Symptoms usually show up early, shortly after birth. But they can also appear later in life. […] Your symptoms depend on how many tumors you have, how big they are, and where they are. When you have TSC, all of that can change throughout your life. […] Tumors in a kidney can stop it from working like it should. They can also cause bleeding inside your body or high blood pressure. […] Tumors in your heart usually happen when you’re young, and they shrink over time. But they can block blood flow or cause problems with your heart rhythm. […] Lung tumors can make you short of breath, even after mild exercise. They can also cause a cough or make your lung collapse. […] Tumors in your brain could cause: Seizures, which can be mild at first, Behavior changes, such as temper tantrums, anxiety, or sleep problems, Nausea or headaches, Problems such as autism and developmental delays.

• #76

  https://www.nhs.uk/conditions/tuberous-sclerosis/

  Tuberous sclerosis is present from birth, although it may not cause obvious problems immediately. […] The tumours caused by tuberous sclerosis can result in a range of associated health problems, including: epilepsy a condition that causes seizures (fits), learning disabilities, hyperactivity, an autistic spectrum disorder, skin abnormalities such as patches of light-coloured or thickened skin, or red acne-like spots on the face, the kidneys not working properly, breathing difficulties, a build-up of fluid on the brain (hydrocephalus). […] These problems can range from mild to severe, and it’s possible to have only a few of these problems or a wide range. […] Some people have few symptoms and the condition has little effect on their life, while others particularly those with a faulty TSC2 gene or obvious problems from an early age can have severe and potentially life-threatening problems that require lifelong care.

• #77 Tuberous Sclerosis (TSC) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/tuberous-sclerosis

  Some of the largest challenges for children with TSC and their families are developmental and behavior disorders caused by brain function impairment. […] Many children born with tuberous sclerosis live full and productive lives. […] As with most genetic conditions, the long-term outlook for a diagnosed child varies widely based upon severity of the symptoms. […] Early detection of tuberous sclerosis is very important to slow or halt progression of the condition.

• #78 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #79 Medical Science Monitor | Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation – Article abstract #16139

  https://medscimonit.com/abstract/index/idArt/16139

  Background:Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. […] Results:Epilepsy, depigmented spots, and periventricular calcification and cortical tubers were diagnosed in all the 4 patients, cardiac rhabdomyoma and angiomyolipoma of the kidneys in 3, and mental retardation and forehead fibroma in 2. Other symptoms occurred rarely or were absent. There was variability in TSC symptoms in patients with the identical type of TSC2 mutation. The main symptoms were present in all or in the majority of patients. Clinical picture also differed with the age of patient. […] Conclusions:There are many influencing factors contributing to the diversity of the clinical picture and pathology of TSC. Obviously, a greater number of cases are needed for further analysis and more precise conclusions.

• #80 Medical Science Monitor | Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation – Article abstract #16139

  https://medscimonit.com/abstract/index/idArt/16139

  Background:Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. […] Results:Epilepsy, depigmented spots, and periventricular calcification and cortical tubers were diagnosed in all the 4 patients, cardiac rhabdomyoma and angiomyolipoma of the kidneys in 3, and mental retardation and forehead fibroma in 2. Other symptoms occurred rarely or were absent. There was variability in TSC symptoms in patients with the identical type of TSC2 mutation. The main symptoms were present in all or in the majority of patients. Clinical picture also differed with the age of patient. […] Conclusions:There are many influencing factors contributing to the diversity of the clinical picture and pathology of TSC. Obviously, a greater number of cases are needed for further analysis and more precise conclusions.

• #81 Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03118-9

  Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. […] About 80% of TSC patients have a history of seizures that often are difficult to treat or even refractory to treatment. Furthermore, a population-based study found intellectual disabilities in approximately 50% of affected individuals; as many as 30% were classified as profoundly disabled. […] In general, we observed good awareness for the most prominent manifestations of the disease within both recipients groups.

• #82

  https://www.nhs.uk/conditions/tuberous-sclerosis/

  Many people will have a normal lifespan, although a number of life-threatening complications can develop. These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus. […] People with tuberous sclerosis may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare.

• #83 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Renal angiomyolipomas may manifest in 55% to 75% of patients. Incidence increases with age, and a longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years. […] The prognosis for TSC includes the following: Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. The morbidity of TSC is quite significant for patients and caregivers. In addition, mortality is significantly higher than in patients without TSC, and various long-term studies report mortality at 4.8% to 8.3% at a follow-up range of 8 to 17.4 years. […] Mortality is most often caused by complications of seizures or renal angiomyolipomas.

• #84

  https://www.nhs.uk/conditions/tuberous-sclerosis/symptoms/

  Nearly half of all children with tuberous sclerosis will have a learning disability, which can range from mild to severe. […] Behavioural and neurodevelopmental conditions are more common in children with tuberous sclerosis, particularly those with learning disabilities. […] A small number of people with tuberous sclerosis develop large brain tumours that grow big enough to obstruct the flow of cerebrospinal fluid through the brain. […] If the flow of cerebrospinal fluid is blocked, it can cause pressure to build in the brain. This is called hydrocephalus. Symptoms can include headaches, neck pain, feeling and being sick, increasing drowsiness, changes in your mental state, such as confusion, blurred vision, double vision or loss of vision, difficulty walking, a sudden change in bladder or bowel control, such as urinary incontinence, worsening epilepsy or challenging behaviour.

• #85 Symptoms | Tuberous Sclerosis Center | Washington University in St. Louis

  https://tuberoussclerosiscenter.wustl.edu/about-tsc/symptoms/

  When growth of SEGAs obstructs the flow of spinal fluid through the ventricles, this can sometimes lead to a more emergent situation due to pressure build-up in the brain, often presenting with progressive lethargy, behavioral changes, headache, or vomiting. […] Skin involvement is common as a more obvious symptom of TSC. […] While most tumors in TSC usually do not spread (metastasize), behave aggressively, or become cancerous, tumor growth can still sometimes cause serious symptoms and involve organs such as the heart, kidney, lung and eye. […] Heart involvement, when significant, usually affects infants and can cause abnormal heart rhythms (arrhythmias) or symptoms of heart failure. […] As patients with TSC get older, growth of kidney tumors called renal angiomyolipomas can start to cause problems with hypertension and bleeding, and rarely can become cancerous. […] If this lung involvement progresses, there can be significant compromise of respiratory function, with cough, shortness of breath, and pnemothorax.

• #86

  https://www.nhs.uk/conditions/tuberous-sclerosis/symptoms/

  Tuberous sclerosis causes non-cancerous (benign) tumours to develop in many areas of the body. The condition can lead to a range of different problems depending on where the tumours grow. […] Problems caused by these tumours can develop at any age, but most often start early in childhood. The severity of these problems can vary significantly, and some tumours cause no noticeable problems. […] Most people with tuberous sclerosis will have epilepsy and experience repeated seizures (fits). […] Some young children experience a more serious condition, known as infantile spasms, where they have lots of seizures over a short space of time and brain activity is abnormal all the time. […] Infantile spasms tend to disappear as a child gets older but, by then, they may have led to some degree of permanent brain damage, which can cause problems such as moderate to severe intellectual disability, epilepsy that does not respond to medication, and autism.

• #87

  https://www.nhs.uk/conditions/tuberous-sclerosis/symptoms/

  Nearly half of all children with tuberous sclerosis will have a learning disability, which can range from mild to severe. […] Behavioural and neurodevelopmental conditions are more common in children with tuberous sclerosis, particularly those with learning disabilities. […] A small number of people with tuberous sclerosis develop large brain tumours that grow big enough to obstruct the flow of cerebrospinal fluid through the brain. […] If the flow of cerebrospinal fluid is blocked, it can cause pressure to build in the brain. This is called hydrocephalus. Symptoms can include headaches, neck pain, feeling and being sick, increasing drowsiness, changes in your mental state, such as confusion, blurred vision, double vision or loss of vision, difficulty walking, a sudden change in bladder or bowel control, such as urinary incontinence, worsening epilepsy or challenging behaviour.

• #88 Symptoms | Tuberous Sclerosis Center | Washington University in St. Louis

  https://tuberoussclerosiscenter.wustl.edu/about-tsc/symptoms/

  When growth of SEGAs obstructs the flow of spinal fluid through the ventricles, this can sometimes lead to a more emergent situation due to pressure build-up in the brain, often presenting with progressive lethargy, behavioral changes, headache, or vomiting. […] Skin involvement is common as a more obvious symptom of TSC. […] While most tumors in TSC usually do not spread (metastasize), behave aggressively, or become cancerous, tumor growth can still sometimes cause serious symptoms and involve organs such as the heart, kidney, lung and eye. […] Heart involvement, when significant, usually affects infants and can cause abnormal heart rhythms (arrhythmias) or symptoms of heart failure. […] As patients with TSC get older, growth of kidney tumors called renal angiomyolipomas can start to cause problems with hypertension and bleeding, and rarely can become cancerous. […] If this lung involvement progresses, there can be significant compromise of respiratory function, with cough, shortness of breath, and pnemothorax.

• #89 Tubular Sclerosis Complex – Causes & Symptoms

  https://lonestarneurology.net/blog/tubular-sclerosis-complex/

  Epileptic seizures are a common sign, affecting around 85% of individuals. Seizures can be difficult to treat with standard medications. And they can have a significant impact on quality of life. […] Tubular Sclerosis can cause tumors in the brain. It can lead to a range of neurological signs. They’re developmental delays, intellectual disability, and autism spectrum illness. Other potential neurological symptoms may include headaches, migraines, and sleep problems. […] TSC disease can cause tumors in the kidneys. They can lead to kidney disease and, potentially, kidney failure. Symptoms may include high blood pressure, proteinuria, and decreased kidney function. […] The illness can cause eye tumors, leading to vision problems or blindness. Other eye abnormalities may include retinal hamartomas. They are non-cancerous growths on the retina.

• #90 tuberous sclerosis symptoms

  https://www.medicalnewstoday.com/articles/tuberous-sclerosis-symptoms

  Tuberous sclerosis, or tuberous sclerosis complex (TSC), causes noncancerous tumor growth. Symptoms vary but may include behavioral issues, kidney disease, and skin problems. […] The symptoms of tuberous sclerosis help determine a persons outlook. For example, more severe symptoms may indicate that the disease has progressed. […] Most people with tuberous sclerosis have a normal life expectancy. However, the individual outlook varies greatly, and there is no cure. Tumors affecting the brain and spinal cord can cause serious complications. […] TSC symptoms vary significantly. […] It is estimated that more than 90% of adults and children with TSC experience emotional, behavioral, or developmental issues, but just 20% receive treatment for these issues. […] About 80% of children with TSC have at least one kidney lesion by the average age of 10 and a half. Kidney disease is the second leading cause of TSC-related death.

• #91 tuberous sclerosis symptoms

  https://www.medicalnewstoday.com/articles/tuberous-sclerosis-symptoms

  Tuberous sclerosis, or tuberous sclerosis complex (TSC), causes noncancerous tumor growth. Symptoms vary but may include behavioral issues, kidney disease, and skin problems. […] The symptoms of tuberous sclerosis help determine a persons outlook. For example, more severe symptoms may indicate that the disease has progressed. […] Most people with tuberous sclerosis have a normal life expectancy. However, the individual outlook varies greatly, and there is no cure. Tumors affecting the brain and spinal cord can cause serious complications. […] TSC symptoms vary significantly. […] It is estimated that more than 90% of adults and children with TSC experience emotional, behavioral, or developmental issues, but just 20% receive treatment for these issues. […] About 80% of children with TSC have at least one kidney lesion by the average age of 10 and a half. Kidney disease is the second leading cause of TSC-related death.

• #92 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Renal angiomyolipomas may manifest in 55% to 75% of patients. Incidence increases with age, and a longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years. […] The prognosis for TSC includes the following: Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. The morbidity of TSC is quite significant for patients and caregivers. In addition, mortality is significantly higher than in patients without TSC, and various long-term studies report mortality at 4.8% to 8.3% at a follow-up range of 8 to 17.4 years. […] Mortality is most often caused by complications of seizures or renal angiomyolipomas.

• #93 Tubular Sclerosis Complex – Causes & Symptoms

  https://lonestarneurology.net/blog/tubular-sclerosis-complex/

  Tubular Sclerosis can cause tumors in the lungs. They may lead to breathing difficulties, coughing, or shortness of breath. Lung problems may more likely occur in individuals with a more severe form of the condition. […] The illness can cause heart tumors, leading to heart problems such as arrhythmias or heart failure. Other potential heart symptoms may include chest pain or palpitations. […] The condition can cause a range of behavioral and cognitive problems. They’re developmental delays, learning disabilities, and autism spectrum illnesses. Individuals may also experience anxiety, depression, or other mental health problems.

• #94 Orphanet: Tuberous sclerosis complex

  https://www.orpha.net/en/disease/detail/805

  Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia and pulmonary cysts develop during adulthood and manifest with dyspnea, pneumothorax, or chylothorax. […] Cardiac rhabdomyomas appear during the fetal period, are rarely symptomatic, and tend to decrease in size in early childhood. […] TSC is a chronic, life-long condition. As patients transition into adulthood, seizures may persist; renal and/or pulmonary issues may become more frequent and clinically significant.

• #95 Tuberous Sclerosis Complex Clinical Presentation: History, Physical, Complications

  https://emedicine.medscape.com/article/1177711-clinical

  Pulmonary involvement typically occurs in the second or third decade, with dyspnea, pneumothorax, or chylothorax. It often is misdiagnosed as emphysema, particularly in those with a history of smoking. […] The generally benign SENs can degenerate into SEGAs in 5-10% of cases. SEGAs can grow, often in an extremely indolent fashion, resulting in ventricular obstruction and hydrocephalus. Since this process occurs very gradually, patients may have marked hydrocephalus when they finally become symptomatic. […] Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy. Fifty to sixty percent of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Symptomatic pulmonary involvement occurs almost exclusively in adult women, generally aged 30 or older.

• #96 Tuberous sclerosis complex | MedLink Neurology

  https://www.medlink.com/handouts/tuberous-sclerosis

  Skin abnormalities vary widely in individuals with TSC. Most cause no problems but are helpful in diagnosis. Some cases may cause disfigurement, necessitating treatment. […] Kidney problems such as cysts and angiomyolipomas (benign growths of fatty tissue and muscle cells) occur in an estimated 70 to 80 percent of individuals with TSC. They usually occur between ages 15 and 30. […] Lung lesions are present in about one-third of adult women with TSC and are much less commonly seen in men. Lung lesions include lymphangioleiomyomatosis (LAM) and multinodular multifocal pneumocyte hyperplasia (MMPH). LAM is a tumor-like disorder in which cells proliferate in the lungs, and there is lung destruction with cyst formation. A range of symptoms can occur with LAM, with many TSC individuals having no symptoms, while others suffer with breathlessness, which can progress and be severe. MMPH is a more benign tumor that occurs in men and women equally.

• #97 Tuberous Sclerosis Complex – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/neurocutaneous-syndromes-in-children/tuberous-sclerosis-complex

  Solid, raised areas (nodules) may develop in the lungs, particularly in adolescent girls. This condition is called lymphangioleiomyomatosis. […] How well affected people do depends on how severe the symptoms are. If symptoms are mild, infants generally do well and grow up to live long, productive lives. If symptoms are severe, infants may have severe disabilities. […] Nonetheless, most children continue to progress developmentally, and life expectancy is usually unaffected.

• #98 What is TSC? – TSC Alliance

  https://www.tscalliance.org/understanding-tsc/what-is-tsc/

  Some people live with few symptoms while others need continual support. […] Most people with TSC will live a normal life span. Although there is no cure, there is hope. Research has proven that early diagnosis and intervention(s) are key for optimizing long-term outcomes.

• #99 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Renal angiomyolipomas may manifest in 55% to 75% of patients. Incidence increases with age, and a longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years. […] The prognosis for TSC includes the following: Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. The morbidity of TSC is quite significant for patients and caregivers. In addition, mortality is significantly higher than in patients without TSC, and various long-term studies report mortality at 4.8% to 8.3% at a follow-up range of 8 to 17.4 years. […] Mortality is most often caused by complications of seizures or renal angiomyolipomas.

• #100 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #101 Tuberous Sclerosis Complex: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177711-overview

  Findings in TSC include the following: […] Neurologic findings: Abnormal neurologic findings result from the location, size, and growth of tubers and the presence of subependymal nodules (SENs) and subependymal giant cell astrocytomas (SEGAs) […] Cardiac findings: Cardiac involvement is usually maximal at birth or early in life; it may be the presenting sign of TSC, particularly in early infancy; 5060% of individuals with TSC have evidence of cardiac disease, mostly rhabdomyomas. […] Ophthalmic findings: At least 50% of patients have ocular abnormalities; some studies have reported a prevalence as high as 80%; these lesions are actually retinal astrocytomas that tend to become calcified over time […] Renal findings: Renal manifestations of TSC are the second most common clinical feature; four types of lesions can occur: autosomal dominant polycystic kidney disease lesions, isolated renal cyst(s), angiomyolipomas (AMLs), and renal cell carcinomas […] The prognosis of patients with tuberous scelrois complex (TSC) is not as grim as has been typically thought. Higher numbers of tubers, earlier onset and intractability of seizures, and infantile spasms are associated with (but do not guarantee) worse cognitive and behavioral outcomes.

• #102 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Renal angiomyolipomas may manifest in 55% to 75% of patients. Incidence increases with age, and a longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years. […] The prognosis for TSC includes the following: Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. The morbidity of TSC is quite significant for patients and caregivers. In addition, mortality is significantly higher than in patients without TSC, and various long-term studies report mortality at 4.8% to 8.3% at a follow-up range of 8 to 17.4 years. […] Mortality is most often caused by complications of seizures or renal angiomyolipomas.

• #103 Tuberous Sclerosis Complex (TSC) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tuberous-sclerosis-complex-tsc

  Over 80 percent of people with TSC have some type of kidney (renal) lesion. […] Most children with TSC live active, productive lives and have a normal life expectancy. Many of the complications associated with TSC can be managed effectively if caught and treated early. This makes it important for your child to be followed by a physician throughout his or her life. […] TSC can affect people in different ways at different times in their lives. Some of the symptoms may get better as your child grows. For example, epilepsy often resolves or is well-controlled, and heart tumors usually shrink or disappear completely as children get older. However, kidney or brain tumors can often grow into adulthood and they can sometimes cause serious problems that require treatment. TSC can affect individuals at any point in their lives, which makes it important for your child to be monitored closely throughout his or her life.

• #104 Tuberous Sclerosis – Brain Foundation

  https://brainfoundation.org.au/disorders/tuberous-sclerosis/

  The common feature of Tuberous Sclerosis is the overgrowth of normal tissue in the brain and in other organs, including the skin, kidneys, heart, liver and lungs. These growths begin to form in the brain prior to birth and can interfere with brain functioning. They can cause seizures, delayed development, intellectual disability, and autistic or hyperactive behaviour. […] The symptoms of Tuberous Sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected. […] The effects of TSC are very varied. Many people with TSC are intellectually normal and lead perfectly normal lives; some have medical problems, epilepsy and mental ill health. There are rarely problems with mobility in TSC. Contrary to what has been believed for many years, the prognosis for patients with the condition is very good. The life expectancy for the majority of people with TS is normal, even for those with severe learning difficulties and epilepsy.

• #105 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Renal angiomyolipomas may manifest in 55% to 75% of patients. Incidence increases with age, and a longitudinal study showed a 75% prevalence of renal angiomyolipomas by the age of 10.5 years. […] The prognosis for TSC includes the following: Each patient will present different manifestations of the disease and will, therefore, follow different clinical courses. The morbidity of TSC is quite significant for patients and caregivers. In addition, mortality is significantly higher than in patients without TSC, and various long-term studies report mortality at 4.8% to 8.3% at a follow-up range of 8 to 17.4 years. […] Mortality is most often caused by complications of seizures or renal angiomyolipomas.

• #106

  https://www.nhs.uk/conditions/tuberous-sclerosis/

  Many people will have a normal lifespan, although a number of life-threatening complications can develop. These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus. […] People with tuberous sclerosis may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare.

• #107 Tuberous sclerosis – Wikipedia

  https://en.wikipedia.org/wiki/Tuberous_sclerosis

  About 90% of people with TSC develop a range of neurodevelopmental, behavioural, psychiatric, and psychosocial difficulties. […] Behavioural problems most commonly seen include overactivity, impulsivity and sleeping difficulties. Also common are anxiety, mood swings, and severe aggression. […] The intellectual ability of people with TSC varies enormously. About 40-50% have a normal IQ. […] The prognosis for individuals with TSC depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities and epilepsy to severe intellectual disability, uncontrollable seizures, and kidney failure. Those individuals with mild symptoms generally do well and live long, productive lives, while individuals with the more severe form may have serious disabilities. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy. […] Leading causes of death include renal disease, brain tumour, lymphangioleiomyomatosis of the lung, and status epilepticus or bronchopneumonia in those with severe intellectual disability.

• #108

  https://www.nhs.uk/conditions/tuberous-sclerosis/

  Many people will have a normal lifespan, although a number of life-threatening complications can develop. These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus. […] People with tuberous sclerosis may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare.

• #109 Tuberous Sclerosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17586-tuberous-sclerosis

  Most people with TSC will need regular imaging scans every one to two years, especially MRI scans. This usually starts early in childhood and lasts until age 21. Some people will need regular imaging scans throughout their life to detect new tumors or monitor existing ones. […] TSC can have a wide range of effects depending on how severe it is. […] Tuberous sclerosis is a permanent, lifelong condition.

• #110 Medical Care for Tuberous Sclerosis Complex Symptoms

  https://www.massgeneral.org/neurology/tsc/patient-education/medical-care

  Because tuberous sclerosis complex (TSC) is a lifelong condition, it is important for all individuals with the disorder to be followed medically from infancy through old age. […] The range of symptoms among people with TSC varies dramatically, from minor skin lesions to severe epileptic seizures, cognitive impairment, and, in rare cases, life-threatening conditions. Symptoms in the same individual may change over time, as well. Tumors or cysts that once posed no threat may rapidly double in size or number, potentially threatening normal organ function. […] What is clear for all cases, however, is that early diagnosis, careful monitoring, and intervention can dramatically improve the long-term prognosis for people with TSC. […] Regular monitoring is also essential to identify problems that may arise over time. Most physicians recommend complete examinations every one to three years on average, but a coordinated treatment plan should be determined on an individual basis.

• #111 Tuberous Sclerosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17586-tuberous-sclerosis

  Most people with TSC will need regular imaging scans every one to two years, especially MRI scans. This usually starts early in childhood and lasts until age 21. Some people will need regular imaging scans throughout their life to detect new tumors or monitor existing ones. […] TSC can have a wide range of effects depending on how severe it is. […] Tuberous sclerosis is a permanent, lifelong condition.

• #112 Medical Care for Tuberous Sclerosis Complex Symptoms

  https://www.massgeneral.org/neurology/tsc/patient-education/medical-care

  Following diagnosis, a schedule for routine follow-up care should be established with the individual’s physician or team of physicians. This schedule should include periodic monitoring of brain abnormalities throughout childhood and adolescence, kidney imaging, neurodevelopmental testing, and lung imaging in women beginning around the age of puberty. […] Further testing such as mental health evaluations, and procedures such as embolization to slow or stop the growth of kidney tumors, or laser surgery to remove angiofibromas may be recommended by a physician to maintain quality of life and overall health.

• #113 Tuberous sclerosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/diagnosis-treatment/drc-20365971

  Symptoms of tuberous sclerosis may be noticed at birth. […] Your child may have only mild problems and keep up with peers in terms of academic, social and physical abilities. Or your child may have more-serious health and developmental problems and lead a life that is less independent or is different from what you may have expected. […] Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many symptoms may take years to develop. Finding and managing problems early can help prevent complications.

• #114 Medical Care for Tuberous Sclerosis Complex Symptoms

  https://www.massgeneral.org/neurology/tsc/patient-education/medical-care

  Because tuberous sclerosis complex (TSC) is a lifelong condition, it is important for all individuals with the disorder to be followed medically from infancy through old age. […] The range of symptoms among people with TSC varies dramatically, from minor skin lesions to severe epileptic seizures, cognitive impairment, and, in rare cases, life-threatening conditions. Symptoms in the same individual may change over time, as well. Tumors or cysts that once posed no threat may rapidly double in size or number, potentially threatening normal organ function. […] What is clear for all cases, however, is that early diagnosis, careful monitoring, and intervention can dramatically improve the long-term prognosis for people with TSC. […] Regular monitoring is also essential to identify problems that may arise over time. Most physicians recommend complete examinations every one to three years on average, but a coordinated treatment plan should be determined on an individual basis.

• #115 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  Tuberous sclerosis complex (TSC) is a genetic disease that can cause noncancerous tumors to grow in many different parts of the body, such as the skin, brain, kidneys, or other organs. […] Some of the possible symptoms of TSC include intellectual disabilities or serious health problems, depending on where the tumors grow. […] TSC is a lifelong condition, and its signs and symptoms vary from person to person and can change frequently. […] Many people find out they have TSC after having seizures. […] Others may have birthmarks on their skin. […] Sometimes TSC is diagnosed before birth when a prenatal ultrasound discovers masses in the heart. […] TSC can show up in many different places in the body and can cause many different kinds of health problems that require many different kinds of care. […] And because TSC’s signs and symptoms can change as a patient ages, our treatment plans include a schedule of periodic follow-up visits to take care of any new problems as they arise.

• #116 What is TSC? – TSC Alliance

  https://www.tscalliance.org/understanding-tsc/what-is-tsc/

  Some people live with few symptoms while others need continual support. […] Most people with TSC will live a normal life span. Although there is no cure, there is hope. Research has proven that early diagnosis and intervention(s) are key for optimizing long-term outcomes.

• #117 Tuberous Sclerosis (TSC) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/tuberous-sclerosis

  Some of the largest challenges for children with TSC and their families are developmental and behavior disorders caused by brain function impairment. […] Many children born with tuberous sclerosis live full and productive lives. […] As with most genetic conditions, the long-term outlook for a diagnosed child varies widely based upon severity of the symptoms. […] Early detection of tuberous sclerosis is very important to slow or halt progression of the condition.

• #118 Tuberous Sclerosis (TSC): Symptoms, Causes & Treatment – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/neurology-neurosurgery/tuberous-sclerosis

  Tuberous sclerosis complex can also raise the risk of autism spectrum disorder and developmental delays. […] People with TSC can experience a wide range of issues, from mild symptoms to life-threatening complications. Some of these include: White patches on the skin, Skin rashes, Rough growths around the nails, Headaches, Nausea and vomiting, Difficulty breathing (caused by growths in the lungs), Problems with kidney function (caused by kidney tumors), Seizures that often develop during childhood (caused by brain tumors), Irregular heartbeat (caused by heart tumors). […] Although there currently is no cure for tuberous sclerosis, early intervention and comprehensive care can help patients manage their symptoms. That is why its important to see a specialist early on. […] Because TSC can cause serious complications, it requires ongoing monitoring and management from specialists who understand the disease.

• #119 Tuberous Sclerosis Complex | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/tuberous-sclerosis-complex/

  The signs and symptoms of TSC are unique to each person, but they can include: Neurological issues due to brain tumors can include seizures or spasms, mental issues such as developmental delays, autism spectrum disorders, learning disabilities, and behavioral problems such as hyperactivity, aggression and social and emotional adjustment issues. […] Everyone with TSC is at risk for life-threatening symptoms related to the brain tumors, kidney lesions, or pulmonary lesions. […] Treatment depends widely on what part of the body TSC is affecting and how severely. Treatment options for the following complications may include: If your child is at risk of seizures due to brain tumors, we prescribe antiepileptic drugs. […] For behavioral problems, your child’s doctor may prescribe medications or suggest intervention programs including special schooling and occupational therapy.

• #120 Tuberous Sclerosis Complex (TSC) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tuberous-sclerosis-complex-tsc

  Over 80 percent of people with TSC have some type of kidney (renal) lesion. […] Most children with TSC live active, productive lives and have a normal life expectancy. Many of the complications associated with TSC can be managed effectively if caught and treated early. This makes it important for your child to be followed by a physician throughout his or her life. […] TSC can affect people in different ways at different times in their lives. Some of the symptoms may get better as your child grows. For example, epilepsy often resolves or is well-controlled, and heart tumors usually shrink or disappear completely as children get older. However, kidney or brain tumors can often grow into adulthood and they can sometimes cause serious problems that require treatment. TSC can affect individuals at any point in their lives, which makes it important for your child to be monitored closely throughout his or her life.

• #121 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  Tuberous sclerosis complex (TSC) is a genetic disease that can cause noncancerous tumors to grow in many different parts of the body, such as the skin, brain, kidneys, or other organs. […] Some of the possible symptoms of TSC include intellectual disabilities or serious health problems, depending on where the tumors grow. […] TSC is a lifelong condition, and its signs and symptoms vary from person to person and can change frequently. […] Many people find out they have TSC after having seizures. […] Others may have birthmarks on their skin. […] Sometimes TSC is diagnosed before birth when a prenatal ultrasound discovers masses in the heart. […] TSC can show up in many different places in the body and can cause many different kinds of health problems that require many different kinds of care. […] And because TSC’s signs and symptoms can change as a patient ages, our treatment plans include a schedule of periodic follow-up visits to take care of any new problems as they arise.

• #122 Tuberous Sclerosis – Brain Foundation

  https://brainfoundation.org.au/disorders/tuberous-sclerosis/

  The common feature of Tuberous Sclerosis is the overgrowth of normal tissue in the brain and in other organs, including the skin, kidneys, heart, liver and lungs. These growths begin to form in the brain prior to birth and can interfere with brain functioning. They can cause seizures, delayed development, intellectual disability, and autistic or hyperactive behaviour. […] The symptoms of Tuberous Sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected. […] The effects of TSC are very varied. Many people with TSC are intellectually normal and lead perfectly normal lives; some have medical problems, epilepsy and mental ill health. There are rarely problems with mobility in TSC. Contrary to what has been believed for many years, the prognosis for patients with the condition is very good. The life expectancy for the majority of people with TS is normal, even for those with severe learning difficulties and epilepsy.

• #123 Tuberous Sclerosis – Symptoms and Treatment | familydoctor.org

  https://familydoctor.org/condition/tuberous-sclerosis/

  The symptoms of tuberous sclerosis are different for different people. Some people may have mild symptoms. Others may have intellectual disabilities and seizures that are hard to control. […] Tuberous sclerosis is a lifelong condition, though many people who have it live a normal life. Their symptoms are mild or can be treated by their doctor. If symptoms are more severe, the disease can have more of an impact on your life. For example, children who have uncontrollable seizures or a severe mental disability may need assistance for the rest of their lives. […] Anyone who has tuberous sclerosis is at higher risk of developing complications related to brain tumors or kidney lesions. That is why it is important to see your doctor regularly. They can help monitor your symptoms and catch complications early.

• #124

  https://www.nhs.uk/conditions/tuberous-sclerosis/

  Tuberous sclerosis is present from birth, although it may not cause obvious problems immediately. […] The tumours caused by tuberous sclerosis can result in a range of associated health problems, including: epilepsy a condition that causes seizures (fits), learning disabilities, hyperactivity, an autistic spectrum disorder, skin abnormalities such as patches of light-coloured or thickened skin, or red acne-like spots on the face, the kidneys not working properly, breathing difficulties, a build-up of fluid on the brain (hydrocephalus). […] These problems can range from mild to severe, and it’s possible to have only a few of these problems or a wide range. […] Some people have few symptoms and the condition has little effect on their life, while others particularly those with a faulty TSC2 gene or obvious problems from an early age can have severe and potentially life-threatening problems that require lifelong care.

• #125 Tuberous sclerosis | healthdirect

  https://www.healthdirect.gov.au/tuberous-sclerosis

  Tuberous sclerosis is an uncommon genetic disorder, that involves the overgrowth of normal tissue in many different parts of your body. […] Symptoms vary widely, so you may be severely affected by tuberous sclerosis, or you may not realise you have it. […] Growths can affect many parts of your body including your brain, skin, kidneys, eyes, heart and lungs. […] Symptoms may include: skin abnormalities, such as red or pink spots on your face, or discolouration of your skin or nails elsewhere; benign growths on your brain, kidneys, heart, lungs, gut or eyes these tumours are not cancerous but can cause problems if they become large and affect normal body functions; seizures; autism spectrum disorder; intellectual disability or difficulties with learning, behaviour, thinking or mental health.

• #126 Tuberous Sclerosis – Symptoms and Treatment | familydoctor.org

  https://familydoctor.org/condition/tuberous-sclerosis/

  The symptoms of tuberous sclerosis are different for different people. Some people may have mild symptoms. Others may have intellectual disabilities and seizures that are hard to control. […] Tuberous sclerosis is a lifelong condition, though many people who have it live a normal life. Their symptoms are mild or can be treated by their doctor. If symptoms are more severe, the disease can have more of an impact on your life. For example, children who have uncontrollable seizures or a severe mental disability may need assistance for the rest of their lives. […] Anyone who has tuberous sclerosis is at higher risk of developing complications related to brain tumors or kidney lesions. That is why it is important to see your doctor regularly. They can help monitor your symptoms and catch complications early.

• #127 Tuberous Sclerosis: Symptoms, Treatments, and Outlook

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/tuberous-sclerosis

  Kidney-related symptoms can include: malfunctioning kidney, blood in the urine, sudden, extreme pain in the abdomen, high blood pressure, kidney failure, kidney cancer. […] Tuberous sclerosis tumors in the heart can be present at birth and will shrink as the child grows. However, in rare cases, these tumors may be large enough to cause irregular heart rhythm or heart failure. […] Many people with tuberous sclerosis develop benign tumors within the eye’s retina or at the optic nerve. Any vision changes depend on the location of the tumors. […] People with tuberous sclerosis can develop benign lung tumors. Tumors that grow large enough to compress nearby healthy lung tissue can cause breathing difficulties. […] The outlook for people with tubular sclerosis varies depending on the severity of symptoms. Some cases are mild, and symptoms may never appear or become problematic. Many people with tuberous sclerosis live long and productive lives. In other situations, the condition may be life threatening.

• #128 Medical Science Monitor | Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation – Article abstract #16139

  https://medscimonit.com/abstract/index/idArt/16139

  Background:Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. […] Results:Epilepsy, depigmented spots, and periventricular calcification and cortical tubers were diagnosed in all the 4 patients, cardiac rhabdomyoma and angiomyolipoma of the kidneys in 3, and mental retardation and forehead fibroma in 2. Other symptoms occurred rarely or were absent. There was variability in TSC symptoms in patients with the identical type of TSC2 mutation. The main symptoms were present in all or in the majority of patients. Clinical picture also differed with the age of patient. […] Conclusions:There are many influencing factors contributing to the diversity of the clinical picture and pathology of TSC. Obviously, a greater number of cases are needed for further analysis and more precise conclusions.

• #129 Early years and childhood – The Tuberous Sclerosis Association

  https://tuberous-sclerosis.org/life-with-tsc/early-years-and-childhood/

  When a child is diagnosed with Tuberous Sclerosis Complex (TSC) it can be a confusing, stressful and overwhelming time for everyone involved. […] It is common for parents and loved ones to struggle to take in all of the information given to them about the condition and what it might mean for their child. […] The Tuberous Sclerosis Association (TSA) strongly believe that every child diagnosed with TSC should have access to the best possible healthcare, education and therapies available to treat and manage the impact that the condition can have. […] Just because one person has certain features of TSC does not mean that another person will, with the impact TSC having a sliding scale of severity for every individual. […] As the effects of TSC are so variable, the level of support that you and your family may need will also be different to others.

• #130 Tuberous sclerosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/symptoms-causes/syc-20365969

  Kidney problems. Growths on the kidneys are common, and more growths may develop with age. […] Lung problems. Growths that develop in the lungs may cause coughing or trouble breathing, especially with physical activity or exercise. These lung tumors occur more often in females than in males. […] Symptoms of tuberous sclerosis may be noticed at birth. Or the first symptoms may appear during childhood or even years later in adulthood. […] There is no cure for tuberous sclerosis, and the course of the disorder and how bad it gets can’t be predicted. But treatments are available to manage symptoms.

• #131 Tuberous Sclerosis Diagnosis, Symptoms, and Treatment

  https://www.webmd.com/children/tuberous-sclerosis

  Symptoms usually show up early, shortly after birth. But they can also appear later in life. […] Your symptoms depend on how many tumors you have, how big they are, and where they are. When you have TSC, all of that can change throughout your life. […] Tumors in a kidney can stop it from working like it should. They can also cause bleeding inside your body or high blood pressure. […] Tumors in your heart usually happen when you’re young, and they shrink over time. But they can block blood flow or cause problems with your heart rhythm. […] Lung tumors can make you short of breath, even after mild exercise. They can also cause a cough or make your lung collapse. […] Tumors in your brain could cause: Seizures, which can be mild at first, Behavior changes, such as temper tantrums, anxiety, or sleep problems, Nausea or headaches, Problems such as autism and developmental delays.

• #132 Medical Care for Tuberous Sclerosis Complex Symptoms

  https://www.massgeneral.org/neurology/tsc/patient-education/medical-care

  Because tuberous sclerosis complex (TSC) is a lifelong condition, it is important for all individuals with the disorder to be followed medically from infancy through old age. […] The range of symptoms among people with TSC varies dramatically, from minor skin lesions to severe epileptic seizures, cognitive impairment, and, in rare cases, life-threatening conditions. Symptoms in the same individual may change over time, as well. Tumors or cysts that once posed no threat may rapidly double in size or number, potentially threatening normal organ function. […] What is clear for all cases, however, is that early diagnosis, careful monitoring, and intervention can dramatically improve the long-term prognosis for people with TSC. […] Regular monitoring is also essential to identify problems that may arise over time. Most physicians recommend complete examinations every one to three years on average, but a coordinated treatment plan should be determined on an individual basis.

• #133 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  Tuberous sclerosis complex (TSC) is a genetic disease that can cause noncancerous tumors to grow in many different parts of the body, such as the skin, brain, kidneys, or other organs. […] Some of the possible symptoms of TSC include intellectual disabilities or serious health problems, depending on where the tumors grow. […] TSC is a lifelong condition, and its signs and symptoms vary from person to person and can change frequently. […] Many people find out they have TSC after having seizures. […] Others may have birthmarks on their skin. […] Sometimes TSC is diagnosed before birth when a prenatal ultrasound discovers masses in the heart. […] TSC can show up in many different places in the body and can cause many different kinds of health problems that require many different kinds of care. […] And because TSC’s signs and symptoms can change as a patient ages, our treatment plans include a schedule of periodic follow-up visits to take care of any new problems as they arise.

• #134 Early years and childhood – The Tuberous Sclerosis Association

  https://tuberous-sclerosis.org/life-with-tsc/early-years-and-childhood/

  There are a number of features of TSC which might present themselves in newborns and children. […] Some infants with TSC may have ‘infantile spasms’, a form of epilepsy that results in sudden jerks or movements that could involve all or certain parts of the body. […] Often, the first sign of TSC in a young child is epilepsy. […] A person living with TSC may develop challenges with intellectual ability, including problems with speech/language development. […] Problems with intellectual ability may start to present themselves in early childhood. […] Nine out of every 10 people living with Tuberous Sclerosis Complex (TSC) develop TSC-associated neuropsychiatric disorders (TAND) at some point in their lives. […] The support and care that your child needs will depend on how much TSC impacts on their life and the lives of those around him. […] Many children with TSC attend mainstream schools and nurseries, with some children getting extra support within these settings.

• #135 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  Tuberous sclerosis complex (TSC) is a genetic disease that can cause noncancerous tumors to grow in many different parts of the body, such as the skin, brain, kidneys, or other organs. […] Some of the possible symptoms of TSC include intellectual disabilities or serious health problems, depending on where the tumors grow. […] TSC is a lifelong condition, and its signs and symptoms vary from person to person and can change frequently. […] Many people find out they have TSC after having seizures. […] Others may have birthmarks on their skin. […] Sometimes TSC is diagnosed before birth when a prenatal ultrasound discovers masses in the heart. […] TSC can show up in many different places in the body and can cause many different kinds of health problems that require many different kinds of care. […] And because TSC’s signs and symptoms can change as a patient ages, our treatment plans include a schedule of periodic follow-up visits to take care of any new problems as they arise.

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