Materiały źródłowe

• #1 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Neurofibromatosis type 1 (NF1) usually is diagnosed during childhood. Symptoms are seen at birth or shortly afterward and almost always by age 10. Symptoms tend to be mild to moderate, but they can vary from person to person. […] Symptoms include: […] Flat, light brown spots on the skin, known as cafe au lait spots. These harmless spots are common in many people. But having more than six cafe au lait spots suggests NF1. They often are present at birth or appear during the first years of life. After childhood, new spots stop appearing. […] Freckling in the armpits or groin area. Freckling often appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds. […] Tiny bumps on the iris of the eye, known as Lisch nodules. These nodules can’t easily be seen and don’t affect vision.

• #1 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Soft, pea-sized bumps on or under the skin called neurofibromas. These benign tumors usually grow in or under the skin but can also grow inside the body. A growth that involves many nerves is called a plexiform neurofibroma. Plexiform neurofibromas, when located on the face, can cause disfigurement. Neurofibromas may increase in number with age. […] Bone changes. Changes in bone development and low bone mineral density can cause bones to form in an irregular way. People with NF1 may have a curved spine, known as scoliosis, or a bowed lower leg. […] Tumor on the nerve that connects the eye to the brain, called an optic pathway glioma. This tumor usually appears by age 3. The tumor rarely appears in late childhood and among teenagers, and almost never in adults. […] Learning disabilities. It’s common for children with NF1 to have some trouble with learning. Often there is a specific learning disability, such as trouble with reading or math. Attention-deficit/hyperactivity disorder (ADHD) and speech delay also are common.

• #1 Neurofibromatosis 1 – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1109/

  Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple caf au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. […] About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. […] Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease. […] The cardinal clinical manifestations of NF1 include multiple caf au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, subcutaneous or deep nodular neurofibromas, plexiform neurofibromas, and characteristic ocular signs.

• #1 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume. […] Short stature. Children who have NF1 often are below average in height. […] Complications of neurofibromatosis type 1 (NF1) vary, even within the same family. Generally, complications occur when tumors affect nerve tissue or press on internal organs. […] Complications of NF1 include: […] Neurological symptoms. Trouble with learning and thinking are the most common neurological symptoms associated with NF1. Less common complications include epilepsy and the buildup of excess fluid in the brain. […] Concerns with appearance. Visible signs of NF1 can include widespread cafe au lait spots, many neurofibromas in the facial area or large neurofibromas. In some people this can cause anxiety and emotional distress, even if they’re not medically serious.

• #1 Neurofibromatosis type 1 (NF1)

  https://www.rch.org.au/kidsinfo/fact_sheets/Neurofibromatosis/

  Freckling: People with NF1 often have freckles in unusual places such as the armpit or the groin. They also tend to appear later (between ages three and five). Skin freckles are smaller than caf au lait spots. […] Neurofibromas: These are benign swellings around nerves, which are usually seen as small lumps in or under the skin. Neurofibromas are not normally seen in young children, but tend to increase in number and size around puberty and in adult life. They are usually small and generally cause no physical symptoms. […] Lisch nodules: These are small freckles within the iris (the coloured part of the eye). Lisch nodules develop by puberty in people with NF1. They are usually seen only on examination with a special lamp, and never affect vision or cause other symptoms. […] Other common features of NF1 include: learning difficulties, which may cause some problems at school; headaches, which are more common in children with NF1 than in the general population.

• #1 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Skeletal symptoms. Some children have bones that didn’t form as usual. This can cause bowing of the legs and fractures that sometimes don’t heal. NF1 can cause curvature of the spine, known as scoliosis, that may need bracing or surgery. NF1 also is associated with lower bone mineral density, which increases the risk of weak bones, known as osteoporosis. […] Changes in vision. Sometimes a tumor called an optic pathway glioma develops on the optic nerve. When this happens, it can affect vision. […] Increase in symptoms during times of hormonal change. Hormonal changes associated with puberty or pregnancy might cause an increase in neurofibromas. Most people who have NF1 have healthy pregnancies but will likely need monitoring by an obstetrician who is familiar with NF1. […] Cardiovascular symptoms. People who have NF1 have an increased risk of high blood pressure and may develop blood vessel conditions.

• #1 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  Your symptoms and how severe they are can change over time. Its important to tell your doctor about any new symptoms or changes to existing symptoms. […] Neurofibromatosis type 1 (NF1) is a lifelong condition that usually gets worse over time. It affects everyone who has it differently. […] As the condition gets gradually worse and can cause serious problems, it can affect life expectancy. Your care team will be able to speak to you about this if you want to know more. […] Sometimes neurofibromatosis type 1 (NF1) can lead to further problems or serious complications. […] These can include: high blood pressure, bone and joint problems some children have weak bones that can cause bowed legs or a curved spine (scoliosis), a tumour on the nerve to the eye (optic nerve), which can cause vision problems, depression, anxiety and low self-esteem caused by large tumours or tumours on your face, cancer some tumours can become cancerous and theres a higher risk of developing certain types of cancer, including breast cancer and brain cancer. […] If you have NF1 and are pregnant, you may get problems, such as narrowed arteries and high blood pressure. You may also get more tumours, or your tumours may get bigger and be itchy.

• #1 Neurofibromatosis Type 1 (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/nf.html

  Neurofibromatosis type 1 (NF1) is a genetic condition. It causes benign (not cancerous) tumors to grow in and under the skin, often with bone, hormone, and other problems. Most kids with NF1 have mild symptoms that don’t limit what they can do. Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called caf-au-lait („coffee with milk”) spots because of their color. Children with NF1 may be slower to walk, talk, and reach other milestones than most kids. They also may have: bumps in and under the skin (called neurofibromas), a head that looks large for the body, headaches, trouble learning, attention problems and hyperactivity, a shorter height than most children the same age, side-to-side curves in the backbone (scoliosis), curving, thinning, or weakness of the forearms or lower leg bones, freckles in their armpits or in the crease between the belly and hip (groin). The symptoms of NF1 are mild in some children, but severe in others.

• #1 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177266-overview

  Adolescence for both genders may precipitate the development of subcutaneous and cutaneous neurofibromas. Increase in the size of existing neurofibromas and the appearance of new neurofibromas during pregnancy is a frequent observation in women with NF1. […] Scoliosis in NF1 is often mild, but a subset of children younger than 10 years develop a more rapidly progressive form of scoliosis that requires aggressive intervention. […] Although most individuals with neurofibromatosis type 1 (NF1) lead relatively long and healthy lives, the overall life expectancy may be reduced by on average 8 years. The major causes for this increased morbidity and subsequent mortality are hypertension, sequelae of spinal cord lesions, and malignancy.

• #1 Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02174-3

  Developmental delay (30.0% vs 3.1%, p=0.036), PN (28.6% vs 5.7%, p=0.030), and NF1+ (71.4% vs 30.2%, p=0.011) was more commonly observed in familial cases. […] The common phenotypes exhibiting progression were developmental delay in language (N=7) or fine motor (N=3) according to KICDT. […] In the follow-up WBMRI, the radiologic aspects, optic nerve signal change or thickening, were newly developed in eight patients. Additionally, optic nerve signal change and severe PN (one patient), severe PN and diffuse superficial neurofibroma (one patient), nerve root tumor (one patient), brain tumor on pons (one patient), and neuroblastoma in the left adrenal gland (one patient) were also newly developed. […] Clinical and genotypic features were compared between patients experiencing or not experiencing disease progression.

• #1 How neurofibromatosis 1-associated plexiform neurofibromas progress

  https://www.medicalnewstoday.com/articles/nf1-pn-progression

  Rapid NF1-PN growth and symptom progression are typical during early childhood, but disease progression can occur at any time. […] NF1-PN generally develops at birth or in early childhood, growing most rapidly before 5 years of age. During the early years, NF1-PN typically progresses at the fastest rate, with tumors potentially increasing in volume by 20% to 240% per year. […] As people age, NF1-PN tumor growth usually slows. In adulthood, tumor growth greater than 20% is uncommon, and available data suggests that most increase in size by less than 5% annually. […] People with NF1-PN may experience various symptoms depending on how the tumors affect their nerves. These symptoms may change over time as tumors grow or shrink. […] A 2018 review involving 41 people with NF1-PN looked at how the symptoms associated with these tumors change over time. Over approximately 6.5 years, more people reported symptoms related to pain, motor dysfunction, and bladder and bowel problems.

• #1 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  Freckling in the armpits or the groin. This usually appears by age 5. Freckles are similar in appearance to caf au lait spots but smaller. Freckling can happen in other conditions, but the freckling alongside other common symptoms can indicate NF1. […] Soft, pea-sized bumps called neurofibromas. These are common and can appear on the skin (known as cutaneous), under the skins surface (subcutaneous), or on any nerve throughout the body. Although some cutaneous neurofibromas develop in childhood, most appear during or after the teenage years and may occur more often with age. […] Plexiform neurofibromas. These happen in about 50% of patients with NF1 and involve multiple nerves and surrounding tissues near nerves and organs in the body. About 10-15% of the neurofibromas can become dangerous over a persons lifetime and turn into a malignant tumor of nerve coverings.

• #1 Pain in Neurofibromatosis Type 1 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/article/pain-in-neurofibromatosis-type-1/

  One of most common challenges for individuals with NF1 is living with chronic pain. By definition, chronic pain is persistent pain that continues for weeks, months, or even years. This occurs when the pain signals within a persons nerves continue to fire, and the severity can vary by individual. In general, it is estimated that about 25% of the general U.S. population ages 20 and over report pain lasting greater than 24 hours. In patients with NF1, estimates of those experiencing chronic pain range from 35 to 53%. […] What are some of the NF1-related symptoms and conditions that cause pain? Probably the most common of these is plexiform neurofibromas, or PNs. PNs are benign tumors comprised of a proliferation of cells in the nerves. They are found in about 30 to 50% of people with NF1. Most often, they grow rapidly during childhood, although they may go for years without being detected.

• #1 Neurofibromatosis – Types and Treatments – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/neurofibromatosis

  Lisch nodules in the eyes. Lisch nodules are small brown tumors that often appear on the colored part of the eye (iris) in people with NF1. […] Other complications. Learning disabilities affect many children with NF1. A child may be delayed in learning to walk or talk. […] In addition, NF1 can cause orthopaedic problems, including bone abnormalities. The most common orthopaedic problems in children with NF1 include: […] Scoliosis. Scoliosis is a sideways curve of the spine. […] Congenital pseudarthrosis of the tibia. Neurofibromatosis Type 1 can cause bones to grow abnormally. The tibia (shinbone) is the bone most commonly affected. […] The majority of people with NF1 will experience only moderate symptoms throughout their lives. Only a small percentage of NF1 patients will have orthopaedic problems that require treatment.

• #1 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  The symptoms of neurofibromatosis type 1 (NF1) are often mild. But some people have symptoms that cause problems. […] How severe the symptoms are usually depends on where the tumours are in your body and how big they are. […] Many of the symptoms are there from birth or start during early childhood, but some do not appear until later. […] Symptoms of NF1 can include: light brown patches of skin (caf-au-lait spots) these may be harder to see on brown and black skin, freckles in your armpits or around the tops of your legs, lumps on or just under your skin (neurofibromas) that can be painful or itchy these tend to appear during the teenage years or early 20s, yellow-brown raised dots on the coloured part of your eye (iris) that do not usually affect vision, eye problems, such as a squint, reduced vision, or a bulging eye (which can sometimes cause further symptoms like headaches or feeling and being sick), a large head and below average height, learning difficulties.

• #1 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  A tumor of the optic pathway (optic pathway glioma). This happens in about 15-20% of children with NF1. Children ages 1 to 6 years are at the greatest risk for these tumors. Most of the time, optic gliomas do not cause symptoms. Sometimes, optic pathway gliomas can affect vision and require chemotherapy. […] Learning difficulties and attention deficit hyperactivity disorder. These conditions happen in over half of people with NF1. These conditions may vary in their severity. Also, difficulty with social relationships (social cognition) is common. […] Complications of NF1 include: Vascular conditions, such as congenital heart defects, high blood pressure (hypertension), stenosis (hardening) of the arteries to the kidneys (called renal artery stenosis), or narrowing of the major blood vessels to the brain (called Moyamoya disease).

• #1 Neurofibromatosis type 1 (NF1): Treating health complications

  https://www.aboutkidshealth.ca/neurofibromatosis-type-1-nf1-treating-health-complications

  Most children with NF1 will have only mild symptoms that do not need treatment. […] If you have any concerns, call your doctor. Do not ignore new or concerning symptoms in your child. […] Neurofibromas develop over time throughout the life span. […] Plexiform neurofibromas usually do not need to be removed and can be difficult to remove. […] However, in most cases (85%), an optic nerve glioma will not cause any problems with the child’s sight or health, and is considered asymptomatic (not causing symptoms) and requires monitoring with eye examinations and MRI. […] If scoliosis is confirmed on X-ray, your child may be referred to a bone specialist (orthopaedic surgeon). […] Learning difficulties are more common in children with NF1. […] Other, less common complications of NF1 include seizures, increased fluid surrounding the brain (hydrocephalus), early (precocious) puberty, narrowing of the artery that supplies blood to the kidney (renal artery stenosis), congenital heart defects, narrowing of an artery in the brain (Moyamoya disease).

• #1 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Trouble breathing. Rarely, plexiform neurofibromas can put pressure on the airway. […] Cancer. Some people who have NF1 develop cancerous tumors. These usually arise from neurofibromas under the skin or from plexiform neurofibromas. People who have NF1 also have a higher risk of other forms of cancer. They include breast cancer, leukemia, colorectal cancer, brain tumors and some types of soft tissue cancer. Screening for breast cancer should begin earlier, at age 30, for women with NF1 compared to the general population. […] Benign adrenal gland tumor, known as a pheochromocytoma. This noncancerous tumor produces hormones that raise your blood pressure. Surgery often is needed to remove it.

• #1 When Your Child Has Neurofibromatosis Type 1 (NF1) | Saint Luke’s Health System

  https://www.saintlukeskc.org/health-library/when-your-child-has-neurofibromatosis-type-1-nf1

  Neurofibromatosis type 1 (NF1) is a condition that causes the abnormal growth of pigment cells in the skin. It also causes noncancerous (benign) tumors along nerves in the skin, brain, and other parts of the body. NF1 is often not life-threatening. But other problems may occur over time. These may include seizures, developmental delay, and increased risk for cancerous and noncancerous tumors. […] Symptoms for NF1 include: […] Skin lesions. These can include light-brown spots or freckles in the underarms and groin. The light-brown spots are called caf-au-lait spots. These skin lesions are not harmful. But they may make a child feel self-conscious. […] Lisch nodules. These are lesions on the colored part of the eye (the iris). They may be found during a routine eye exam. […] Tumors. These can grow on or under the skin. They can also form along certain nerves, especially the optic (eye) nerve or spinal nerves. Tumors can also form in the brain and other body areas. The tumors are often not cancer. But tumors that grow in certain parts of the body can cause serious problems that need treatment. […] Problems with bone growth. This can happen especially along the spine. This may cause scoliosis. […] Nervous system problems. These may include headaches or seizures. A child may also have developmental delay. This may include problems with learning, reasoning, or behavior. […] Thinking and behavioral problems. Many children with NF1 can have trouble adjusting at school. This may cause them to feel depressed and parents to worry. These issues need to be recognized early on and addressed correctly.

• #1 Neurofibromatosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/neurofibromatosis

  Neurofibromas harmless, soft pink, small lumps that can grow on nerves anywhere in the body. They are most visible in the skin. Most commonly, neurofibromas first appear around adolescence but, by age 30, almost all people with NF1 will have several (and some have hundreds). Over time, neurofibromas may slowly grow in size. It is rare for them to cause any problems; however, some people may have concerns about their appearance. […] Plexiform neurofibromas localised areas where a tangle of extra nerve tissue sits within normal tissues. They can occur anywhere in the body. About five per cent of plexiform neurofibromas cause a major problem with appearance. They almost always develop before birth and most become obvious by two years of age. […] Learning difficulties these are particular learning disabilities where a child of normal intellect has specific problems in certain areas of their learning. For example, around half of people with NF1 experience learning difficulties in the areas of reading, mathematics or spelling.

• #1 Neurofibromatosis type 1

  https://www.nccs.com.sg/patient-care/specialties-services/pages/neurofibromatosis-type-1.aspx

  The number of neurofibromas in individuals with NF1 can vary greatly, from just a few to hundreds. Most are not medically concerning, but can cause pain and itching. […] These types of neurofibromas can become cancerous in 10% of cases. […] 15% of children with NF1 may develop an optic glioma, usually before the age of 6. Most do not cause any symptoms, but some can affect vision and may require treatment. […] Learning challenges occur in about 50% of children with NF1. […] For a minority of people with NF1, hypertension is one of the serious complications of NF1. People with NF1 should have their blood pressure checked annually. […] Because NF1 can affect different parts of the body, and symptoms can vary from person to person, doctors and healthcare professionals from different specialities may be involved in the care of NF1 patients. This may include dermatologists, neurologists, ophthalmologists, orthopaedists, oncologists, cardiologists and genetic counsellors. These doctors will help manage risk and symptoms that come with NF1. […] Additionally, ongoing research is focused on ways to identify drugs and therapies for people with NF1. These treatments include the shrinking or halting of the growth of neurofibromas associated with NF1. Furthermore, NF1 individuals with cancer can also consider targeted therapies for treatment.

• #1 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  While NF1 is rare, it is the most common type of NF. Symptoms can develop slowly, so getting the correct diagnosis may take several years. But most people are diagnosed during early childhood. Most people with NF1 have an average life expectancy. […] Children and adults with NF1 have different symptoms and medical problems that can develop throughout their lives. Signs and symptoms of NF1 include: […] Flat, light brown spots on the skin (caf au lait spots). These are the most common sign of NF1. People with NF1 almost always have more than six of these spots. The spots are smaller in children than in adults (at least half a centimeter versus over 1.5 centimeters). Caf au lait spots are not always present at birth and may appear more often and spread to more areas of the body over time.

• #1 Neurofibromatosis | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/n/neurofibromatosis

  Neurofibromatosis 1 is the most common type of neurofibromatosis, affecting 1 in 3,000 people. NF1 is characterized by: […] Symptoms can worsen over time or stay the same. About two-thirds of people with NF1 have mild to moderate symptoms during their lives. The other third will have more severe complications at some time during their life. […] Children with neurofibromatosis 1 can experience additional symptoms, such as: […] Learning disabilities. About 60% of children with neurofibromatosis 1 will have some type of learning disability or attention-deficit / hyperactivity disorder (ADHD). […] Scoliosis. About 15-20% of children with NF1 can develop scoliosis (sideways curvature of the spine), sometimes early in childhood. This condition can worsen over time and may require surgery.

• #1 Neurofibromatosis type 1 – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/diagnosis-treatment/drc-20350495

  Your child’s skin is checked for cafe au lait spots, which can help diagnose NF1. […] For a diagnosis of NF1, at least two symptoms of the condition must be present. […] A child who has only one symptom and no family history of NF1 is likely to be monitored for any other symptoms. […] There isn’t a cure for neurofibromatosis type 1 (NF1), but symptoms can be managed. […] If your child has NF1, often yearly age-appropriate checkups are recommended to: Check your child’s skin for new neurofibromas or changes in existing ones. […] Contact your healthcare team right away if you notice any changes in symptoms between visits. […] Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. […] Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. […] Cancers related to NF1 are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. […] Many children with NF1 grow up to live healthy lives with few, if any, complications. […] When did you first notice symptoms? Have they changed over time?

• #1 Neurofibromatosis type 1 (NF1)

  https://www.rch.org.au/kidsinfo/fact_sheets/Neurofibromatosis/?msclkid=85a05a36ae6611ecb9d159024a3b0e1a

  Rarely, children with NF1 may have other complications, such as: high blood pressure (hypertension); curvature of the spine (scoliosis); bone problems (seen in the first two years of life); large benign nerve tumours (called plexiform neurofibromas these are usually present at birth); spine and brain tumours that are usually benign; speech delay; epilepsy. […] It is very important that children with NF1 have their eyes checked regularly, as they are at risk of developing optic gliomas. Optic gliomas are small tumours on the nerves behind the eyes. The tumours are benign, but can affect vision by putting pressure on the nerves. Optic gliomas can be treated if detected early. […] NF1 is a variable disorder, and affects children in many different ways. […] It usually causes freckles or spots, and benign swelling around the nerves. […] Many children with NF1 have no or very few medical problems. […] Every child with NF1 is at risk of complications, so it is important to have regular reviews by a doctor and regular eye checks.

• #1 Neurofibromatosis type 1 (NF1) | nidirect

  https://www.nidirect.gov.uk/conditions/neurofibromatosis-type-1-nf1

  Some children with NF1 develop high blood pressure. High blood pressure may be caused by narrowing of the artery to the kidney (renal artery stenosis). This requires specialist treatment if it’s found to be causing your child’s high blood pressure. […] High blood pressure may also be caused by a phaeochromocytoma. This is a tumour of the adrenal glands that is usually benign. It’s more common in adults than children. […] High blood pressure may be associated with potentially serious complications, such as a stroke or a heart attack, if it’s not treated. Children and adults with NF1 should have regular blood pressure checks, usually at least once a year. […] Treatment involves regular monitoring and treating any problems as they occur. […] Careful monitoring and treatment can help people with NF1 live a full life. However, there’s a risk of developing serious problems, such as certain types of cancer that can reduce life expectancy.

• #1 Neurofibromatosis type 1 (NF1): Treating health complications

  https://www.aboutkidshealth.ca/neurofibromatosis-type-1-nf1-treating-health-complications

  If your child has any of the following symptoms, contact their doctor: long-lasting or recurring pain, or pain that wakes your child up or keeps them awake at night, numbness, tingling or weakness in an arm or leg, changes in neurofibromas, such as persistent and continuous pain, rapid increases in size or hardening, problems with vision or bulging of the eyeballs, new, lasting or changing headaches.

• #2 Neurofibromatosis type 1 | Altru Health System

  https://www.altru.org/health-library/conditions/neurofibromatosis-type-1

  Neurofibromatosis type 1 (NF1) usually is diagnosed during childhood. Symptoms are seen at birth or shortly afterward and almost always by age 10. Symptoms tend to be mild to moderate, but they can vary from person to person. […] Symptoms include: […] Flat, light brown spots on the skin, known as cafe au lait spots. These harmless spots are common in many people. But having more than six cafe au lait spots suggests NF1. They often are present at birth or appear during the first years of life. After childhood, new spots stop appearing. […] Freckling in the armpits or groin area. Freckling often appears by ages 3 to 5. Freckles are smaller than cafe au lait spots and tend to occur in clusters in skin folds. […] Tiny bumps on the iris of the eye, known as Lisch nodules. These nodules can’t easily be seen and don’t affect vision.

• #2 Neurofibromatosis Type 1 (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/nf.html

  Neurofibromatosis type 1 (NF1) is a genetic condition. It causes benign (not cancerous) tumors to grow in and under the skin, often with bone, hormone, and other problems. Most kids with NF1 have mild symptoms that don’t limit what they can do. Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called caf-au-lait („coffee with milk”) spots because of their color. Children with NF1 may be slower to walk, talk, and reach other milestones than most kids. They also may have: bumps in and under the skin (called neurofibromas), a head that looks large for the body, headaches, trouble learning, attention problems and hyperactivity, a shorter height than most children the same age, side-to-side curves in the backbone (scoliosis), curving, thinning, or weakness of the forearms or lower leg bones, freckles in their armpits or in the crease between the belly and hip (groin). The symptoms of NF1 are mild in some children, but severe in others.

• #2 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  Freckling in the armpits or the groin. This usually appears by age 5. Freckles are similar in appearance to caf au lait spots but smaller. Freckling can happen in other conditions, but the freckling alongside other common symptoms can indicate NF1. […] Soft, pea-sized bumps called neurofibromas. These are common and can appear on the skin (known as cutaneous), under the skins surface (subcutaneous), or on any nerve throughout the body. Although some cutaneous neurofibromas develop in childhood, most appear during or after the teenage years and may occur more often with age. […] Plexiform neurofibromas. These happen in about 50% of patients with NF1 and involve multiple nerves and surrounding tissues near nerves and organs in the body. About 10-15% of the neurofibromas can become dangerous over a persons lifetime and turn into a malignant tumor of nerve coverings.

• #2 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Soft, pea-sized bumps on or under the skin called neurofibromas. These benign tumors usually grow in or under the skin but can also grow inside the body. A growth that involves many nerves is called a plexiform neurofibroma. Plexiform neurofibromas, when located on the face, can cause disfigurement. Neurofibromas may increase in number with age. […] Bone changes. Changes in bone development and low bone mineral density can cause bones to form in an irregular way. People with NF1 may have a curved spine, known as scoliosis, or a bowed lower leg. […] Tumor on the nerve that connects the eye to the brain, called an optic pathway glioma. This tumor usually appears by age 3. The tumor rarely appears in late childhood and among teenagers, and almost never in adults. […] Learning disabilities. It’s common for children with NF1 to have some trouble with learning. Often there is a specific learning disability, such as trouble with reading or math. Attention-deficit/hyperactivity disorder (ADHD) and speech delay also are common.

• #2 Neurofibromatosis type 1 (NF1)

  https://www.rch.org.au/kidsinfo/fact_sheets/Neurofibromatosis/

  Freckling: People with NF1 often have freckles in unusual places such as the armpit or the groin. They also tend to appear later (between ages three and five). Skin freckles are smaller than caf au lait spots. […] Neurofibromas: These are benign swellings around nerves, which are usually seen as small lumps in or under the skin. Neurofibromas are not normally seen in young children, but tend to increase in number and size around puberty and in adult life. They are usually small and generally cause no physical symptoms. […] Lisch nodules: These are small freckles within the iris (the coloured part of the eye). Lisch nodules develop by puberty in people with NF1. They are usually seen only on examination with a special lamp, and never affect vision or cause other symptoms. […] Other common features of NF1 include: learning difficulties, which may cause some problems at school; headaches, which are more common in children with NF1 than in the general population.

• #2 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  A tumor of the optic pathway (optic pathway glioma). This happens in about 15-20% of children with NF1. Children ages 1 to 6 years are at the greatest risk for these tumors. Most of the time, optic gliomas do not cause symptoms. Sometimes, optic pathway gliomas can affect vision and require chemotherapy. […] Learning difficulties and attention deficit hyperactivity disorder. These conditions happen in over half of people with NF1. These conditions may vary in their severity. Also, difficulty with social relationships (social cognition) is common. […] Complications of NF1 include: Vascular conditions, such as congenital heart defects, high blood pressure (hypertension), stenosis (hardening) of the arteries to the kidneys (called renal artery stenosis), or narrowing of the major blood vessels to the brain (called Moyamoya disease).

• #2 Pediatric Neurofibromatosis Type 1 (NF1) – UChicago Medicine

  https://www.uchicagomedicine.org/comer/conditions-services/pediatric-neurology-neurosurgery/conditions-services/neurofibromatosis/nf-1

  Some signs of NF1 may appear within the first year of life. Other signs may develop as people get older. Some of the common neurofibromatosis type 1 signs and symptoms include: Brown oval or circular spots on the skin called caf-au-lait spots: These are the most common sign of NF1. Other skin signs include freckles under the arms or in the groin. Benign soft tumors or lumps on or below the skin: These are called neurofibromas and affect most people with NF1. Some people with NF1 have tumors or growths that involve deeper tissues, including the nerves, called plexiform neurofibromas. These growths can sometimes be large and change the normal shape of a part of the body or affect internal organs. Occasionally, cancer can form in a plexiform neurofibroma. Brownish-red spots in the iris (the colored part of the eye): These are called Lisch nodules and usually do not cause any symptoms. They are unusual in young children but often develop in teenagers and adults. Learning difficulties: As many as 60 percent of children with NF1 have short attention span, hyperactivity or some difficulty learning in school. Some have problems with visual perception, which makes spelling and math more difficult. Children may also have headaches and difficulties with hearing that can affect schoolwork. Growth problems: People with NF1 may be shorter or have slightly larger heads than the average person. NF1 may also affect bone growth. Some people with NF1 may have bones shrink, bend or break and not heal (pseudoarthrosis). Others may have curvature of the spine (scoliosis). Brain and optic nerve tumors: People with NF1 can develop these tumors, namely low-grade gliomas.

• #2 Pain in Neurofibromatosis Type 1 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/article/pain-in-neurofibromatosis-type-1/

  Up to half of people with NF1 may experience recurrent headaches that are severe enough to interfere with their daily lives. These headaches can begin during childhood, and are typically described as migraines or tension headaches. An occasional cause of headaches in adolescents and adults with NF1 is an adrenal tumor called a pheochromocytoma. This is an endocrine tumor that causes an excess of catecholamine. […] About one fourth of people with NF1 develop scoliosis or other orthopedic problems. Scoliosis often is treated with surgery and corrective braces, both of which can be quite painful and can negatively impact a persons quality of life. Another orthopedic condition that occurs in a small number of people with NF1 is called pseudarthrosis, a problem that can lead to pain and fractures of the long bones that dont heal. Other causes of spinal pain in NF1 are spinal tumors, dural ectasia and vertebral damage resulting from osteopenia.

• #2 Neurofibromatosis type 1 (NF1)

  https://www.rch.org.au/kidsinfo/fact_sheets/Neurofibromatosis/

  Rarely, children with NF1 may have other complications, such as: high blood pressure (hypertension); curvature of the spine (scoliosis); bone problems (seen in the first two years of life); large benign nerve tumours (called plexiform neurofibromas these are usually present at birth); spine and brain tumours that are usually benign; speech delay; epilepsy. […] Every child with NF1 is at risk of complications, so it is important to have regular reviews by a doctor and regular eye checks.

• #2 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  Your symptoms and how severe they are can change over time. Its important to tell your doctor about any new symptoms or changes to existing symptoms. […] Neurofibromatosis type 1 (NF1) is a lifelong condition that usually gets worse over time. It affects everyone who has it differently. […] As the condition gets gradually worse and can cause serious problems, it can affect life expectancy. Your care team will be able to speak to you about this if you want to know more. […] Sometimes neurofibromatosis type 1 (NF1) can lead to further problems or serious complications. […] These can include: high blood pressure, bone and joint problems some children have weak bones that can cause bowed legs or a curved spine (scoliosis), a tumour on the nerve to the eye (optic nerve), which can cause vision problems, depression, anxiety and low self-esteem caused by large tumours or tumours on your face, cancer some tumours can become cancerous and theres a higher risk of developing certain types of cancer, including breast cancer and brain cancer. […] If you have NF1 and are pregnant, you may get problems, such as narrowed arteries and high blood pressure. You may also get more tumours, or your tumours may get bigger and be itchy.

• #2 Neurofibromatosis Type 1 with Plexiform Neurofibromas

  https://www.healthline.com/health/nf1-pn-overview

  If you have NF1-PN, you may also have other symptoms due to NF1 that are not caused by the PN. […] Potential symptoms of NF1 include: freckles in unusual locations, like your armpit and groin, multiple tan or brown birthmarks, known as caf-au-lait spots, Lisch nodules, which cause small clumps of unusual color in the colored part of the eye, atypical bone development, such as an unusually curved spine or bowed legs, macrocephaly, or a large head, shorter than average height, learning disabilities, other types of tumors. […] These symptoms may be noticeable before symptoms of a PN develop. […] Sometimes NF1-PN can change into the cancer MPNST. […] The most common presenting signs and symptoms of MPNST would be a tumor that begins to grow rapidly, begins to change texture, or becomes newly or differently painful, or if you develop new neurologic deficits, like new weakness or numbness, said Jordan.

• #2 Neurofibromatosis type 1

  https://www.nccs.com.sg/patient-care/specialties-services/pages/neurofibromatosis-type-1.aspx

  The number of neurofibromas in individuals with NF1 can vary greatly, from just a few to hundreds. Most are not medically concerning, but can cause pain and itching. […] These types of neurofibromas can become cancerous in 10% of cases. […] 15% of children with NF1 may develop an optic glioma, usually before the age of 6. Most do not cause any symptoms, but some can affect vision and may require treatment. […] Learning challenges occur in about 50% of children with NF1. […] For a minority of people with NF1, hypertension is one of the serious complications of NF1. People with NF1 should have their blood pressure checked annually. […] Because NF1 can affect different parts of the body, and symptoms can vary from person to person, doctors and healthcare professionals from different specialities may be involved in the care of NF1 patients. This may include dermatologists, neurologists, ophthalmologists, orthopaedists, oncologists, cardiologists and genetic counsellors. These doctors will help manage risk and symptoms that come with NF1. […] Additionally, ongoing research is focused on ways to identify drugs and therapies for people with NF1. These treatments include the shrinking or halting of the growth of neurofibromas associated with NF1. Furthermore, NF1 individuals with cancer can also consider targeted therapies for treatment.

• #2 Type 1 neurofibromatosis – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/410

  Type 1 neurofibromatosis (NF1) is an autosomal-dominant genetic disorder with the defining features of caf au lait spots, multiple neurofibromas, and iris Lisch nodules. […] The disorder is progressive, although variable; it will worsen. […] Multiple organ systems are involved: skin, central nervous system, peripheral nerves, eyes, bones, gastrointestinal tract, and vascular and endocrine systems. […] Regular follow-up, especially of complex cases, is recommended to identify early lesions, especially malignant peripheral nerve sheath tumours.

• #2 Neurofibromatosis Type 1 | Rady Children’s Hospital

  https://www.rchsd.org/health-article/neurofibromatosis-type-1/

  Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. […] By their first birthday, most children with NF1 have several skin spots, called caf-au-lait (coffee with milk) spots because of their color. […] Children with NF1 may be slower to walk, talk, and reach other milestones than most kids. They also may have: bumps in and under the skin (called neurofibromas); a head that looks large for the body; headaches; trouble learning; attention problems and hyperactivity; a shorter height than most children the same age; side-to-side curves in the backbone (scoliosis); curving, thinning, or weakness of the forearms or lower leg bones; freckles in their armpits or in the crease between the belly and hip (groin). […] The symptoms of NF1 are mild in some children, but severe in others.

• #2

  https://www.meetaugust.ai/library/en/diseases-conditions/view/neurofibromatosis-type-1

  Neurofibromatosis Type 1 (NF1) is usually diagnosed in childhood. Signs often appear at birth or shortly after, and almost always by age 10. The symptoms can range from mild to moderate, and vary between individuals. […] Symptoms of NF1 can vary greatly. Some people experience only mild symptoms, while others face more serious complications. These complications can include learning difficulties, problems with the heart and blood vessels, vision loss, and pain. […] Common Signs of NF1: Cafe au lait spots: These are flat, light brown spots on the skin. Many people have a few of these spots, but more than six suggests NF1. They typically appear at birth or in the first few years of life, and no new spots usually develop after childhood. […] Freckles in folds: Small freckles, often clustered together, may appear in the armpits or groin area by ages 3 to 5.

• #2 Neurofibromatosis: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/neurofibromatosis

  Neurofibromatosis symptoms are typically mild to moderate. Complications can include learning impairment, hearing or vision loss, heart and blood vessel problems, pain, and sometimes cancer. […] Children and adults with NF1 can have various mild or moderate symptoms and medical problems that can develop over time. […] Signs and symptoms of NF1 include: Caf au lait spots, flat, light brown spots on the skin, are the most common sign of NF1. Caf au lait spots are harmless and are usually present at birth or appear in infancy. Neurofibromas are benign tumors that usually develop on or under the skin but can also grow inside the body. The number of neurofibromas may increase over time, and when they appear on the face can cause disfigurement. Freckling in the armpits or groin area is smaller than caf au lait spots and appears around age 3 to 5. Optic gliomas are tumors that grow on the optic nerve and usually appear by age 6. These tumors can sometimes affect vision. Lisch nodules or iris hamartomas are harmless bumps on the iris of the eye that do not affect vision. Bone deformities such as abnormal bone development can cause scoliosis (a curved spine) or a bowed leg. Large head and short stature may occur in children who have NF1. They tend to have a larger-than-average head and are typically shorter than average. Learning disabilities including mild learning disability and attention-deficit/hyperactivity disorder (ADHD) as well as speech delay are common in children with NF1.

• #2 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177266-overview

  Adolescence for both genders may precipitate the development of subcutaneous and cutaneous neurofibromas. Increase in the size of existing neurofibromas and the appearance of new neurofibromas during pregnancy is a frequent observation in women with NF1. […] Scoliosis in NF1 is often mild, but a subset of children younger than 10 years develop a more rapidly progressive form of scoliosis that requires aggressive intervention. […] Although most individuals with neurofibromatosis type 1 (NF1) lead relatively long and healthy lives, the overall life expectancy may be reduced by on average 8 years. The major causes for this increased morbidity and subsequent mortality are hypertension, sequelae of spinal cord lesions, and malignancy.

• #2 Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02174-3

  However, disease progression was observed in higher proportion in patients with NF1 mutation affecting GRD (61.5% vs 15.8%, p=0.041), SEC (64.0% vs 21.4%, p=0.019), and PH (64.0% vs 21.4%, p=0.019) domains. […] The current study investigates the clinical characteristics and WBMRI findings of NF1 patients younger than 3 years old and their genetic contribution to clinical severity and progression.

• #2 How neurofibromatosis 1-associated plexiform neurofibromas progress

  https://www.medicalnewstoday.com/articles/nf1-pn-progression

  Worsening of symptoms was most likely to occur in people whose NF1-PN tumors grew. […] The clinical progression of NF1-PN is highly variable both between and within people. In general, rapid tumor growth and progression of symptoms are observed during the early childhood years, but disease progression can occur at any time. Spontaneous shrinkage of tumors can also occur, though it is less common.

• #2 About NF | Center for Cancer Research

  https://ccr.cancer.gov/pediatric-oncology-branch/neurofibromatosis-clinical-team/about-nf

  NF1 occurs in approximately 1 in every 3,000 worldwide. […] People with NF1 can develop a variety of symptoms including tumors, skin changes like caf au lait spots and freckling, bone-related problems like a curved spine (scoliosis) and learning challenges. […] About half of people with NF1 will also develop nerve tumors called plexiform neurofibromas (PNs). […] PNs can also develop into cancerous tumors, called malignant peripheral nerve sheath tumors (MPNSTs).

• #2 How neurofibromatosis 1-associated plexiform neurofibromas progress

  https://www.medicalnewstoday.com/articles/nf1-pn-progression

  Rapid NF1-PN growth and symptom progression are typical during early childhood, but disease progression can occur at any time. […] NF1-PN generally develops at birth or in early childhood, growing most rapidly before 5 years of age. During the early years, NF1-PN typically progresses at the fastest rate, with tumors potentially increasing in volume by 20% to 240% per year. […] As people age, NF1-PN tumor growth usually slows. In adulthood, tumor growth greater than 20% is uncommon, and available data suggests that most increase in size by less than 5% annually. […] People with NF1-PN may experience various symptoms depending on how the tumors affect their nerves. These symptoms may change over time as tumors grow or shrink. […] A 2018 review involving 41 people with NF1-PN looked at how the symptoms associated with these tumors change over time. Over approximately 6.5 years, more people reported symptoms related to pain, motor dysfunction, and bladder and bowel problems.

• #2 Neurofibromatosis Type 1 with Plexiform Neurofibromas

  https://www.healthline.com/health/nf1-pn-overview

  Neurofibromatosis type 1 (NF1) is a genetic condition that raises your risk of tumors, including benign plexiform neurofibromas (PN), which grow along tissues that cover nerves. […] PN can cause a variety of symptoms, which vary depending on the location and size of the tumor. […] They can be disfiguring or painful, explained Jordan. With the involvement of nerves, these tumors can also cause a host of other symptoms. […] PN near the surface of the skin may cause a noticeable lump. This lump may get quite large over time. The skin over it may be darker in color or thicker than the surrounding skin. […] Other potential symptoms include: pain, itching, irritation, numbness, weakness, trouble controlling or coordinating movement. […] If a PN is pressing on bones or other tissues or organs, it may cause complications such as: atypical bone growth, difficulties with breathing, swallowing, or eating, hearing or vision changes, bladder or bowel problems, bleeding.

• #2 Neurofibromatosis Type 1 – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/neurofibromatosis-type-1/

  Plexiform neurofibroma. This is a neurofibroma that involves multiple nerves. […] Plexiform neurofibromas can be painful and disfiguring. They may limit limb function or impair organ function. This depends on their location. […] Plexiform neurofibroma may undergo malignant transformation into Malignant Peripheral Nerve Sheath Tumors (MPNSTs). These are very aggressive cancerous tumors. […] Optic Pathway Glioma. These are the most common tumors found in the brain of NF1 patients. They involve the nerves of the eye and can cause blindness. […] The outlook for patients with NF1 can vary widely. Most people with NF1 will live to adulthood. However, their life expectancy is reduced by 1 to 15 years compared to the general population. The most common cause of death is malignancy.

• #2 Neurofibromatosis type 1 | Altru Health System

  https://www.altru.org/health-library/conditions/neurofibromatosis-type-1

  Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume. […] Short stature. Children who have NF1 often are below average in height. […] Complications of neurofibromatosis type 1 (NF1) vary, even within the same family. Generally, complications occur when tumors affect nerve tissue or press on internal organs. […] Neurological symptoms. Trouble with learning and thinking are the most common neurological symptoms associated with NF1. Less common complications include epilepsy and the buildup of excess fluid in the brain. […] Skeletal symptoms. Some children have bones that didn’t form as usual. This can cause bowing of the legs and fractures that sometimes don’t heal. NF1 can cause curvature of the spine, known as scoliosis, that may need bracing or surgery. NF1 also is associated with lower bone mineral density, which increases the risk of weak bones, known as osteoporosis.

• #2 Orphanet: Neurofibromatosis type 1

  https://www.orpha.net/en/disease/detail/636

  Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by caf-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. […] The clinical features are highly variable, even within the same family. Multiple caf-au-lait macules are found in almost all patients (some at birth and most before the first year). Intertriginous freckling develops starting at 5 years of age. Multiple cutaneous and subcutaneous neurofibromas develop in adults. In older patients, they continue to increase in number and size. Cutaneous neurofibromas do not become malignant. Plexiform neurofibromas (growing along the nerve and its branches) may cause disfigurement, pain, and functional problems and are usually present at birth and may become malignant later in life. Ocular manifestations include optic pathway gliomas and iris hamartomas (Lisch nodules). Optic pathway gliomas usually develop before age 6 years, and rarely progress thereafter. Osteopenia, osteoporosis, bone overgrowth, short stature, macrocephaly, scoliosis, skeletal dysplasia (sphenoid wing, vertebral), and pseudoarthrosis may be present. Other features include hypertension, vasculopathy, intracranial tumors, malignant peripheral nerve sheath tumor (MPNST), and occasionally seizures or hydrocephalus. Intellectual development is usually not severely affected but cognitive deficits and learning difficulties are frequent (50%-75%). The overall cancer risk is higher than the general population (lifetime risk of 10-12% for MPNST, mostly between 20-40 years; increased risk of breast cancer before age 50). […] Overall prognosis is good but significant morbidity is common. MPNST generally has a poor prognosis. Malignancy and vascular disease are the most common causes of early demise.

• #2 Neurofibromatosis type 1 (NF1): Treating health complications

  https://www.aboutkidshealth.ca/neurofibromatosis-type-1-nf1-treating-health-complications

  Most children with NF1 will have only mild symptoms that do not need treatment. […] If you have any concerns, call your doctor. Do not ignore new or concerning symptoms in your child. […] Neurofibromas develop over time throughout the life span. […] Plexiform neurofibromas usually do not need to be removed and can be difficult to remove. […] However, in most cases (85%), an optic nerve glioma will not cause any problems with the child’s sight or health, and is considered asymptomatic (not causing symptoms) and requires monitoring with eye examinations and MRI. […] If scoliosis is confirmed on X-ray, your child may be referred to a bone specialist (orthopaedic surgeon). […] Learning difficulties are more common in children with NF1. […] Other, less common complications of NF1 include seizures, increased fluid surrounding the brain (hydrocephalus), early (precocious) puberty, narrowing of the artery that supplies blood to the kidney (renal artery stenosis), congenital heart defects, narrowing of an artery in the brain (Moyamoya disease).

• #2 Pain in Neurofibromatosis Type 1 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/article/pain-in-neurofibromatosis-type-1/

  Given the many pain-related symptoms and complications in individuals with NF1, it is important to let your doctor know about any pain you have. It is ideal to work with a physician who was expertise in NF1. If your doctor does not have experience with this disease, it may be worthwhile to seek out someone who does. […] Not surprisingly, researchers have found that more severe symptoms, including pain, are associated with diminished quality of life among adults and children with NF1. Further, more severe pain has been found among children who have more symptoms of depression and anxiety. According to questionnaires completed by parents of children with NF1, the children with worse pain have a harder time keeping up with activities of daily living, such as dressing, grooming, and getting along with peers. These research findings seem to suggest that pain has a negative impact on things like emotional functioning and quality of life. However, the relationship seems to work both ways. That is, many people report that their pain feels worse when they feel sad, when the quality of their relationships is poor, or even when they have an overall decrease in life satisfaction.

• #2 Neurofibromatosis | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/n/neurofibromatosis

  Neurofibromatosis 1 is the most common type of neurofibromatosis, affecting 1 in 3,000 people. NF1 is characterized by: […] Symptoms can worsen over time or stay the same. About two-thirds of people with NF1 have mild to moderate symptoms during their lives. The other third will have more severe complications at some time during their life. […] Children with neurofibromatosis 1 can experience additional symptoms, such as: […] Learning disabilities. About 60% of children with neurofibromatosis 1 will have some type of learning disability or attention-deficit / hyperactivity disorder (ADHD). […] Scoliosis. About 15-20% of children with NF1 can develop scoliosis (sideways curvature of the spine), sometimes early in childhood. This condition can worsen over time and may require surgery.

• #2 Neurofibromatosis – Types and Treatments – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/neurofibromatosis

  Lisch nodules in the eyes. Lisch nodules are small brown tumors that often appear on the colored part of the eye (iris) in people with NF1. […] Other complications. Learning disabilities affect many children with NF1. A child may be delayed in learning to walk or talk. […] In addition, NF1 can cause orthopaedic problems, including bone abnormalities. The most common orthopaedic problems in children with NF1 include: […] Scoliosis. Scoliosis is a sideways curve of the spine. […] Congenital pseudarthrosis of the tibia. Neurofibromatosis Type 1 can cause bones to grow abnormally. The tibia (shinbone) is the bone most commonly affected. […] The majority of people with NF1 will experience only moderate symptoms throughout their lives. Only a small percentage of NF1 patients will have orthopaedic problems that require treatment.

• #2 Neurofibromatosis type 1 (NF1)

  https://www.rch.org.au/kidsinfo/fact_sheets/Neurofibromatosis/?msclkid=85a05a36ae6611ecb9d159024a3b0e1a

  Rarely, children with NF1 may have other complications, such as: high blood pressure (hypertension); curvature of the spine (scoliosis); bone problems (seen in the first two years of life); large benign nerve tumours (called plexiform neurofibromas these are usually present at birth); spine and brain tumours that are usually benign; speech delay; epilepsy. […] It is very important that children with NF1 have their eyes checked regularly, as they are at risk of developing optic gliomas. Optic gliomas are small tumours on the nerves behind the eyes. The tumours are benign, but can affect vision by putting pressure on the nerves. Optic gliomas can be treated if detected early. […] NF1 is a variable disorder, and affects children in many different ways. […] It usually causes freckles or spots, and benign swelling around the nerves. […] Many children with NF1 have no or very few medical problems. […] Every child with NF1 is at risk of complications, so it is important to have regular reviews by a doctor and regular eye checks.

• #2 Neurofibromatosis type 1 (NF1) | nidirect

  https://www.nidirect.gov.uk/conditions/neurofibromatosis-type-1-nf1

  Some children with NF1 develop high blood pressure. High blood pressure may be caused by narrowing of the artery to the kidney (renal artery stenosis). This requires specialist treatment if it’s found to be causing your child’s high blood pressure. […] High blood pressure may also be caused by a phaeochromocytoma. This is a tumour of the adrenal glands that is usually benign. It’s more common in adults than children. […] High blood pressure may be associated with potentially serious complications, such as a stroke or a heart attack, if it’s not treated. Children and adults with NF1 should have regular blood pressure checks, usually at least once a year. […] Treatment involves regular monitoring and treating any problems as they occur. […] Careful monitoring and treatment can help people with NF1 live a full life. However, there’s a risk of developing serious problems, such as certain types of cancer that can reduce life expectancy.

• #2 Neurofibromatosis Type 1 – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/neurofibromatosis-type-1/

  Macrocephaly (large head). […] Seizures are bursts of electrical activity in the brain. They can cause abnormal behavior. […] Cardiovascular abnormalities. These can include: […] High blood pressure […] Heart abnormalities […] Blood vessel abnormalities […] Cognitive problems. These can include: […] Learning disabilities […] Autism spectrum disorder […] ADHD […] Skeletal abnormalities. These can include: […] Short stature […] Scoliosis (curved spine) […] Eye findings. These can include: […] Lisch nodules (colored spots in the eyes that do not impact vision) […] Glaucoma (high pressure in the eye that leads to blindness) […] Non-cancerous and cancerous tumors. These can include: […] Neurofibroma. Benign, slow-growing lesions can arise from a portion of a nerve. They can be on the skin (soft and bluish or flesh-colored) or below the skin (firm and tender).

• #2 Course of neurofibromatosis type 1 diagnosed in adult woman

  https://www.oatext.com/course-of-neurofibromatosis-type-1-diagnosed-in-adult-woman.php

  Neurofibromatosis type 1 is a progressive disease and, although in some patients the symptoms remain stable, in majority of the patients with the passing time the symptoms escalate. It is impossible to predict the direction of the disease’s progression in an individual patient. Neurofibromatosis type 1 increases the risk of cancerous transformation, especially nervous system tumours. Furthermore interstitial lung diseases, lung cancer, pulmonary hypertension and gastrointestinal tract neoplasms might occur – usually in the adulthood. […] In the presented patient a transformation from neurofibroma to malignant peripheral nerve sheath tumour (MPNST) occurred. Malignant peripheral nerve sheath tumours (MPNST) are aggressive soft tissues sarcomas that take their origin in neural cells. They are characterized by rapid disease progression, high mortality rate, high relapse rate and low response rates to cytotoxic chemotherapy. They remain amongst the most challenging mesenchymal malignancies to treat. In 50% of cases their occurrence is associated with von Reclinghausen’s disease. The prognosis then is poorer than in cases of their spontaneous appearance.

• #2 Genetic Disorder Reference Sheet: Neurofibromatosis Type 1 | Oncology Nursing Society

  https://www.ons.org/publications-research/voice/news-views/08-2023/genetic-disorder-reference-sheet-neurofibromatosis

  Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that stems from a pathogenic variant in the NF1 gene, which regulates the production of the tumor-suppressing neurofibromin protein. NF1 disorder is characterized by pigmentation changes (e.g., caf au lait spots; see image), cutaneous neurofibromas, malignant nerve sheath tumors, gastrointestinal stromal tumors (GISTs), and intellectual disorders. Signs and symptoms vary widely, but NF1 disorders occur in 1 in about 3,0004,000 people. Almost half of the cases are de novo. […] NF1 is associated with an 8- to 15-year reduction in life expectancy, so lifetime screening and appropriate treatment guided by a team familiar with the disorder is necessary. […] NF1 disorders cutaneous manifestations often increase over time, and the accumulated cosmetic burden may contribute to distress and depression in affected individuals.

• #2 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Other signs and symptoms may include: Hearing or vision loss. Spine curvature (scoliosis). Muscle weakness. Numbness or tingling. Pain and headaches. Behavioral changes like attention-deficit/hyperactivity disorder. Learning difficulties. Seizures. […] Symptoms of neurofibromatosis can be present at birth, while others develop as you age into an adult. For example, neurofibromas may show up on your babys skin when theyre born. In many cases, these usually appear during the teenage years. Its common for caf au lait spots to develop on your childs skin during their first few years. Groin and armpit freckles can appear between ages 3 and 5. Symptoms of schwannomatosis usually appear during adulthood, around age 30. […] Complications of neurofibromatosis may include: Hearing loss. Vision loss. Chronic pain. Learning and behavioral problems. Cardiovascular conditions (hypertension, congenital heart conditions). Problems with self-esteem due to skin symptoms. Higher risk of cancers compared to the general population, including breast cancer, and sarcoma (soft tissue cancer).

• #2 What is Neurofibromatosis Type 1 – NF1 – Children’s Tumor Foundation

  https://www.ctf.org/nf1/

  There is no way to predict who will have a mild case and who will develop more serious symptoms, but the majority of those with NF1 will have minor cases (60%). […] Dermal neurofibromas can be cutaneous (on the skin surface) or subcutaneous (under the skin) and are lumps that are very typical to NF1. Most are not a medical issue, but can cause pain and itching. […] Plexiform neurofibromas are less common, occurring in about 25% of NF patients. They can grow large, and can cause problems such as pressure on nerves and organs. […] Lateral curvature of the spine, known as scoliosis, is common in NF1. In most cases it is mild and appears during the teenage growth spurt. In more severe cases, it appears in early childhood and requires close monitoring. […] Intelligence in NF1 is usually in the normal range, but children may need extra help in school. Learning challenges occur in about 50% of children with NF1.

• #2 Neurofibromatosis (NF) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/neurofibromatosis/

  Challenges with attention span, focus, learning and the ability to share their thoughts, ideas and feelings. […] Up to 20% of children with NF1 have a sideways curve in their spine (scoliosis). Depending on how severe your child’s curve is, treatment options may include wearing a back brace or having surgery. […] Half of children with NF1 have problems with learning, speech or ADHD (attention deficit hyperactivity disorder). […] About 30% of children with NF1 are shorter than kids of the same age. In some children, puberty may be early (precocious) or delayed.

• #2 Neurofibromatosis type 1 | Altru Health System

  https://www.altru.org/health-library/conditions/neurofibromatosis-type-1

  Changes in vision. Sometimes a tumor called an optic pathway glioma develops on the optic nerve. When this happens, it can affect vision. […] Increase in symptoms during times of hormonal change. Hormonal changes associated with puberty or pregnancy might cause an increase in neurofibromas. Most people who have NF1 have healthy pregnancies but will likely need monitoring by an obstetrician who is familiar with NF1. […] Cancer. Some people who have NF1 develop cancerous tumors. These usually arise from neurofibromas under the skin or from plexiform neurofibromas. People who have NF1 also have a higher risk of other forms of cancer. They include breast cancer, leukemia, colorectal cancer, brain tumors and some types of soft tissue cancer. Screening for breast cancer should begin earlier, at age 30, for women with NF1 compared to the general population.

• #2 Neurofibromatosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/neurofibromatosis

  Neurofibromatosis type 1 is a very common genetic condition. It affects about one in 3,000 to 5,000 people. NF1 has a wide range of severity and many people with the condition will only be mildly affected. For most people, NF1 does not significantly affect their health. For a few others, NF1 can cause major health problems at certain stages of their lives. […] At present, it is impossible to predict who will remain only mildly affected and who will be more severely affected with NF1. Even different members of the same family can be affected differently. […] The range of features that are characteristic of NF1 (from most to least frequent) include: Flat, coffee-coloured birth marks on the skin these are called cafe-au-lait patches, which means milk coffee in French. The cafe-au-lait patches are harmless and are due to an increase in the pigment (melanin) in the cells in this area of the skin. They usually appear before a child is two years of age. Most often, six or more are present but the number does not relate to the severity of the condition.

• #2 Neurofibromatosis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/neurofibromatosis

  Neurofibromatosis type 1 is a genetic condition that can cause a variety of symptoms, including: […] Some symptoms of NF1 are age-dependent. […] It’s difficult to predict how anyone’s NF1 symptoms will progress. […] Most likely yes. While it’s difficult to predict the course of NF1 for any individual child, most people with NF lead healthy, productive lives. […] It’s impossible to predict how anyone’s NF1 will progress, even by looking at a family member who also has the condition. […] Unfortunately, NF1 is highly unpredictable. At this time, it’s very difficult to predict whether your child’s symptoms will be mild, moderate or severe. Severe complications are rare.

• #2 Impact and Symptoms of NF1-PN | NF1-PN Patient

  https://www.nf1pn.com/symptoms/

  The tumors associated with NF1 are known as plexiform neurofibromas (PNs). Because the size, number, and location of tumors vary, they can affect the body in different ways. Common symptoms that people with NF1-PN experience include: […] While sensation and severity vary, many people living with NF1-PN report pain when their tumor is touched. […] If a joint or limb is impacted, NF1-PN can cause issues with how you walk. […] Since tumors are most often found on the head, neck, and face, they can cause noticeable changes to how you look. […] Depending on the location of PNs, some people may also experience a variety of symptoms, including problems with their hearing, vision, or breathing. It is possible for PNs to become cancerous in up to 16% of people living with NF1. […] There may be times when PNs are growing quickly and other times when they don’t grow or change. Even if symptoms aren’t bothering you or the PNs don’t appear to be changing, it’s important to see a healthcare provider who can keep an eye on things and help make sure the condition doesn’t get worse.

• #2 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  While less common, some neurofibromatosis tumors can develop into cancer. […] A diagnosis can happen several years after you first have symptoms. Some people dont receive a diagnosis until theyre adults. Thats because neurofibromatosis symptoms appear in stages over time. […] No treatment is necessary if you dont have symptoms or your symptoms dont interfere with your daily life. Your provider will recommend annual or twice-annual checkups to monitor the progress of the condition. […] Neurofibromatosis doesnt usually affect your life expectancy. The location of the tumors can make certain aspects of your daily routine difficult without assistance, like hearing and seeing, for example. Complications can lead to possible life-threatening outcomes, like cancer, if left untreated. […] If you have neurofibromatosis, your provider will schedule regular checkups to monitor your symptoms, usually at six- to 12-month intervals. Schedule an additional appointment if you notice any new or worsening symptoms.

• #2 Pain in Neurofibromatosis Type 1 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/article/pain-in-neurofibromatosis-type-1/

  No treatment works well for everyone, but many people with chronic pain benefit from finding the medical and/or psychological treatment that is right for them. Also, it is very important to inform your doctor immediately of any new pain or if your pain increases, especially if the pain emanates from a known PN since new or worsening pain could indicate tumor growth or a malignancy.

• #2 Symptoms of Neurofibromatosis Type 1: Risk Factors & Treatments

  https://www.starhealth.in/symptoms/neurofibromatosis-type-1-symptoms/

  The tumor also causes bone deformities due to NF1, including bowing of the legs or curvature of the spine, known as scoliosis. These can interfere with mobility and be extremely painful. […] Approximately 50% of children diagnosed with NF1 will have some type of learning disability or impaired cognition; memory and attention are typically involved, and motor skills often. […] Children with NF1 may also suffer from a delay in physical and motor development. […] While less common, there have been instances where the cause of headaches or, occasionally, seizures were attributed to NF1. Neurofibromatosis type 1 symptoms manifest over time, which also helps with proper identification. Early diagnosis and effective management of these symptoms are essential to lessening the quality of life. […] Neurofibromatosis Type 1 is a lifelong condition that is heterogeneous in its presentation and rate of progression. Although neurofibromatosis has no cure, early diagnosis and treatment of symptoms can significantly improve the quality of life.

• #3 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  While NF1 is rare, it is the most common type of NF. Symptoms can develop slowly, so getting the correct diagnosis may take several years. But most people are diagnosed during early childhood. Most people with NF1 have an average life expectancy. […] Children and adults with NF1 have different symptoms and medical problems that can develop throughout their lives. Signs and symptoms of NF1 include: […] Flat, light brown spots on the skin (caf au lait spots). These are the most common sign of NF1. People with NF1 almost always have more than six of these spots. The spots are smaller in children than in adults (at least half a centimeter versus over 1.5 centimeters). Caf au lait spots are not always present at birth and may appear more often and spread to more areas of the body over time.

• #3 Neurofibromatosis Type 1 with Plexiform Neurofibromas

  https://www.healthline.com/health/nf1-pn-overview

  Neurofibromatosis type 1 (NF1) is a genetic condition that raises your risk of tumors, including benign plexiform neurofibromas (PN), which grow along tissues that cover nerves. […] PN can cause a variety of symptoms, which vary depending on the location and size of the tumor. […] They can be disfiguring or painful, explained Jordan. With the involvement of nerves, these tumors can also cause a host of other symptoms. […] PN near the surface of the skin may cause a noticeable lump. This lump may get quite large over time. The skin over it may be darker in color or thicker than the surrounding skin. […] Other potential symptoms include: pain, itching, irritation, numbness, weakness, trouble controlling or coordinating movement. […] If a PN is pressing on bones or other tissues or organs, it may cause complications such as: atypical bone growth, difficulties with breathing, swallowing, or eating, hearing or vision changes, bladder or bowel problems, bleeding.

• #3 Neurofibromatosis type 1 (NF1)

  https://www.rch.org.au/kidsinfo/fact_sheets/Neurofibromatosis/

  Rarely, children with NF1 may have other complications, such as: high blood pressure (hypertension); curvature of the spine (scoliosis); bone problems (seen in the first two years of life); large benign nerve tumours (called plexiform neurofibromas these are usually present at birth); spine and brain tumours that are usually benign; speech delay; epilepsy. […] Every child with NF1 is at risk of complications, so it is important to have regular reviews by a doctor and regular eye checks.

• #3 Neurofibromatosis (NF) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/neurofibromatosis/

  Challenges with attention span, focus, learning and the ability to share their thoughts, ideas and feelings. […] Up to 20% of children with NF1 have a sideways curve in their spine (scoliosis). Depending on how severe your child’s curve is, treatment options may include wearing a back brace or having surgery. […] Half of children with NF1 have problems with learning, speech or ADHD (attention deficit hyperactivity disorder). […] About 30% of children with NF1 are shorter than kids of the same age. In some children, puberty may be early (precocious) or delayed.

• #3 Neurofibromatosis Type 1: Causes, Symptoms, and Treatments

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/neurofibromatosis-type-1

  Neurofibromatosis type 1 (NF1) is a genetic disease that causes developmental changes in the nervous system, skin, and bones. The condition is progressive and may worsen quickly during puberty, pregnancy, or other hormonal changes. […] Even within families, NF1 symptoms can vary from person to person, depending on the locations of the tumors and how large they grow. However, some characteristics are present in all cases, and some are more common than others. […] Neurofibromas are one of the first signs of NF1 and usually start to grow within the first 2 years of life. They are noncancerous tumors that grow on nerves and may grow in any organ. They are most recognizable when they grow on or near the skin. […] Pregnancy may increase neurofibroma growth, indicating that hormones can affect the growth of NF1 tumors.

• #3 What is Neurofibromatosis Type 1 – NF1 – Children’s Tumor Foundation

  https://www.ctf.org/nf1/

  There is no way to predict who will have a mild case and who will develop more serious symptoms, but the majority of those with NF1 will have minor cases (60%). […] Dermal neurofibromas can be cutaneous (on the skin surface) or subcutaneous (under the skin) and are lumps that are very typical to NF1. Most are not a medical issue, but can cause pain and itching. […] Plexiform neurofibromas are less common, occurring in about 25% of NF patients. They can grow large, and can cause problems such as pressure on nerves and organs. […] Lateral curvature of the spine, known as scoliosis, is common in NF1. In most cases it is mild and appears during the teenage growth spurt. In more severe cases, it appears in early childhood and requires close monitoring. […] Intelligence in NF1 is usually in the normal range, but children may need extra help in school. Learning challenges occur in about 50% of children with NF1.

• #3 Neurofibromatosis Type 1 (NF1) | American Cancer Society

  https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/neurofibromatosis-type-1.html

  Clusters of freckles in unusual places, like the underarm or groin […] Bone problems, such as a curved spine (scoliosis) or curved long bones (such as the legs) […] Learning challenges such as issues with reading or math. […] Larger head size than average […] Shorter height than average. […] Most NF1 tumors are benign (non-cancerous). However, about 10% of people with NF1 may develop a cancerous tumor called a malignant peripheral nerve sheath tumor (MPNST). This type of tumor grows quickly and can spread to other areas. Early detection and treatment are important. […] NF1 is also associated with increased risk of other cancers, such as breast cancer, gastrointestinal tumors (GIST), and sarcomas.

• #3 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  While less common, some neurofibromatosis tumors can develop into cancer. […] A diagnosis can happen several years after you first have symptoms. Some people dont receive a diagnosis until theyre adults. Thats because neurofibromatosis symptoms appear in stages over time. […] No treatment is necessary if you dont have symptoms or your symptoms dont interfere with your daily life. Your provider will recommend annual or twice-annual checkups to monitor the progress of the condition. […] Neurofibromatosis doesnt usually affect your life expectancy. The location of the tumors can make certain aspects of your daily routine difficult without assistance, like hearing and seeing, for example. Complications can lead to possible life-threatening outcomes, like cancer, if left untreated. […] If you have neurofibromatosis, your provider will schedule regular checkups to monitor your symptoms, usually at six- to 12-month intervals. Schedule an additional appointment if you notice any new or worsening symptoms.

Zobacz więcej