Materiały źródłowe

• #1 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  Neurofibromas are the most common peripheral nerve sheath tumor and are often found either by patients or during routine skin exams. This activity reviews the evaluation and management of neurofibromas and highlights the role of the interprofessional team in managing affected patients. […] Explain the importance of collaboration and communication amongst the interprofessional team to improve outcomes for patients affected by neurofibromas. […] Patients with neurofibromas are often asymptomatic; however, irritation, mild pruritus, pain, or paresthesia, can occur. The presentation may vary by type of neurofibroma, but the most common chief complaint is cosmetic appearance. […] For most cases, complete surgical excision is the preferred treatment, with local recurrence extremely rare. There are currently no alternative therapies for cutaneous neurofibromas.

• #2 Neurofibroma (Neurofibromatosis) Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/neurofibroma

  Neurofibromas are benign tumors of peripheral nerves. They arise from the cells that form and support the nerve sheath: Schwann cells, fibroblasts, and perineural cells. […] Symptoms depend on the location and size of the tumor. Neurofibromas typically are painless, slow-growing masses, and may cause no symptoms. […] At UPMC, the preferred surgical treatment for neurofibroma of the skull base is the Endoscopic Endonasal Approach (EEA). This innovative, minimally invasive technique uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable tumors. Benefits of EEA treatment include: No incisions to heal, No disfigurement, Faster recovery time. […] Surgery is the treatment of choice for neurofibromas; however, surgery is complicated by the fact that these tumors are often interwoven in the nerve structure.

• #3 Neurofibroma | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/neurofibroma

  A neurofibroma is a tumor that forms along peripheral nerves (nerves throughout the body that carry messages to and from the brain and spinal cord). These tumors arise from Schwann cells, a type of cell that helps form the protective sheaths around nerve cells. Neurofibromas can develop on or just under the skin’s surface or deeper in the body. Most neurofibromas develop for no known cause. But in some people, they are linked to neurofibromatosis type 1 (NF1) a genetic condition that affects development of the nervous system, muscles, bones and skin and while neurofibromas are usually benign (noncancerous), those that develop with NF1 can become malignant (cancerous). Typically, neurofibromas are mild in appearance and don’t cause pain. But if the tumor is pressing against nerves or growing within them, it can cause uncomfortable symptoms and complications, and may require treatment.

• #4 Neurofibroma Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/spine/conditions/tumors-lesions/neurofibroma

  Neurofibromas are benign tumors that grow on nerves in the body. These tumors usually develop on or under the skin. […] Neurofibromas are benign tumors of the peripheral nerves. They arise from the cells that form and support the nerve sheath. These tumors infiltrate the nerve and disrupt the sheaths of individual fibers. They can occur as a single tumor or in groups. When multiple tumors appear, they are associated with neurofibromatosis, a genetic disorder also known as von Recklinghausen disease. Symptoms depend on the location and size of the tumor. They are typically painless, slow-growing masses, and may cause no symptoms. Spinal neurofibromas are rare, and comprise approximately three percent of all spinal tumors. […] UPMC offers several options to patients with neurofibromas including surgical treatment and stereotactic radiosurgery.

• #5 Neurofibroma Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/neurofibroma

  Neurofibromas are nerve sheath tumors, or tumors of the layer of insulation that surrounds nerve fibers. […] At the Spine Hospital at the Neurological Institute of New York, we specialize in neurofibromas of the spine. […] The vast majority of neurofibromas90 to 95%are benign (noncancerous) tumors. But even benign neurofibromas can present a problem when they compress important structures like spinal nerves or the spinal cord. […] Symptoms result when a growing tumor encroaches on the surrounding structures. Common symptoms that occur when a neurofibroma compresses the spinal cord or nerve roots include: […] Neurofibromas can also occur in people without neurofibromatosis. These are called sporadic cases. People with sporadic neurofibromas are likely to have only a single tumornot multiple tumors, as with NF2.

• #6 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  Neurofibromas are the most common peripheral nerve sheath tumor and are often found either by patients or during routine skin exams. This activity reviews the evaluation and management of neurofibromas and highlights the role of the interprofessional team in managing affected patients. […] Explain the importance of collaboration and communication amongst the interprofessional team to improve outcomes for patients affected by neurofibromas. […] Patients with neurofibromas are often asymptomatic; however, irritation, mild pruritus, pain, or paresthesia, can occur. The presentation may vary by type of neurofibroma, but the most common chief complaint is cosmetic appearance. […] For most cases, complete surgical excision is the preferred treatment, with local recurrence extremely rare. There are currently no alternative therapies for cutaneous neurofibromas.

• #7 Neurofibroma (Neurofibromatosis) Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/neurofibroma

  Neurofibromas are benign tumors of peripheral nerves. They arise from the cells that form and support the nerve sheath: Schwann cells, fibroblasts, and perineural cells. […] Symptoms depend on the location and size of the tumor. Neurofibromas typically are painless, slow-growing masses, and may cause no symptoms. […] At UPMC, the preferred surgical treatment for neurofibroma of the skull base is the Endoscopic Endonasal Approach (EEA). This innovative, minimally invasive technique uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable tumors. Benefits of EEA treatment include: No incisions to heal, No disfigurement, Faster recovery time. […] Surgery is the treatment of choice for neurofibromas; however, surgery is complicated by the fact that these tumors are often interwoven in the nerve structure.

• #8 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  In rare cases of diffuse or plexiform neurofibromas where complete surgical excision is not possible, lesions are often totally resected for cosmetic or symptomatic relief. These patients require monitoring to watch for rapid growth or recurrence at the discretion of the clinical providers. […] Appropriate diagnosis and treatment of neurofibromas depend on the collaborative efforts of an interprofessional healthcare team. It is crucial for the clinician to communicate history and physical exam findings to the pathologist, and for the pathologist to communicate diagnosis and pertinent details to the clinician, primary care provider, and nurse practitioner, and nursing staff. An accurate history and physical, diagnosis, and interprofessional communication ensure the best outcome for the patient.

• #9 Care of Individuals with Neurofibromatosis Type 1 Amid an Evolving Paradigm of Therapeutic Development

  https://practicalneurology.com/diseases-diagnoses/neuro-oncology/care-of-individuals-with-neurofibromatosis-type-1-amid-an-evolving-paradigm-of-therapeutic-development/35583/

  Treatment for individuals with neurofibromatosis type 1, a complex disease with variabilities in presentation and disease course, requires a multidisciplinary approach with emphasis on surveillance along with ongoing discussion of therapeutic interventions. […] Individuals with NF1 are recommended to undergo regular comprehensive ophthalmologic examinations, have close follow-up with a dermatologist, and be evaluated for clinical signs of pheochromocytoma with regular blood pressure checks. […] To facilitate the transition from pediatric to adult care, it is recommended that a standardized process be in place, such as using a defined age cutoff that is discussed ahead of time (most commonly 18 years) and handoff between the pediatric care provider and the primary adult care provider who will be assuming the individuals health care. […] NF1 is a complex, heterogeneous tumor predisposition syndrome that requires multidisciplinary management, close follow-up, consideration of surveillance imaging, and up-to-date knowledge of the ever-changing landscape of treatment options both available and in development for individuals with NF1.

• #10 How To Manage Plexiform Neurofibroma Symptoms

  https://health.clevelandclinic.org/how-to-manage-plexiform-neurofibroma-symptoms

  Most NF1 care teams start with a neurologist or a neuro-oncologist. They’re the hub: The person in charge of coordinating your care with all the other specialists. Additional members of your multidisciplinary team may include: A mental health professional, A plastic surgeon, A physical or occupational therapist, A pain management specialist. […] An active lifestyle is an important part of plexiform neurofibroma symptom management. So is rehabilitation. If you have surgery to remove a tumor, keeping up with your physical or occupational therapy program is critical. Being aggressive about doing physical therapy [PT] when you need it can help you maintain or even regain function, Dr. Krishnaney states. […] Tracking your symptoms is a daily habit that helps your providers manage your care. The easiest way to monitor your health is to create a symptom journal. Symptom tracking is really helpful because we can catch things earlier. It’s especially helpful in cases that involve organ systems. It means we can try to preserve the organ’s function and address your symptoms.

• #11 Support for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/support

  A dedicated, full-time nurse coordinator and family nurse practitioner are assigned to help people with neurofibromatosis and their families find the medical, surgical, and supportive services they need at NYU Langone. […] These nurses and their supervising physicians are available to assist you and your family as any needs or questions arise during treatment. […] NYU Langones supportive care team is available to provide relief from any discomfort or pain associated with neurofibromatosis or its treatments. […] Side effect management may include additional medications, integrative therapies, or both. […] Counseling can often help to manage any stress or anxiety adults or children and their families may be experiencing with a diagnosis of neurofibromatosis. […] Our social workers and financial counselors are available to help people cope with financial, social, and physical challenges.

• #12 Importance of Multidisciplinary Care in Management of Neurofibromatosis Type 1 Related Plexiform Neurofibroma

  https://www.neurologylive.com/view/importance-of-multidisciplinary-care-in-management-of-neurofibromatosis-type-1-related-plexiform-neurofibroma

  Kaleb Yohay, MD, an expert in NF1-PN, emphasizes the importance of multidisciplinary and comprehensive team care in managing the condition, detailing the essential team members required to facilitate a successful transition from adolescent to adult care. […] What is the role of a multidisciplinary and comprehensive team care in the management of NF1-PN, and who are the necessary team members to help accomplish successful transition?

• #13 Multidisciplinary Neurofibromatosis and Schwannomatosis Clinic – Neurosurgery | UCLA Health

  https://www.uclahealth.org/medical-services/neurosurgery/conditions-treated/multidisciplinary-neurofibromatosis-and-schwannomatosis

  The UCLA NF/SWN Clinic offers a comprehensive multidisciplinary approach for neurofibromatosis type 1, NF2-related Schwannomatosis (NF2) and other schwannomatosis patients. […] The core team includes pediatric and adults neuro-oncologists, medical oncologists, neurosurgeons, neuro-otologists, and clinical geneticists. […] The UCLA NF/SWN Clinic is one of the few in the country that sees both adults and children. […] Care providers at the UCLA NF/SWN Clinic are part of one of the largest brain, spine, and peripheral nerve tumor centers in the world. […] At the UCLA NF Clinic, a team of doctors and other health care professionals works together to provide the most effective and safest treatment possible for patients with neurofibromatosis. […] Other doctors and health care professionals with special expertise in neurofibromatosis may also be part of the care team.

• #14 | Neurofibromatosis Center | Washington University in St. Louis

  https://nfcenter.wustl.edu/

  Our patients benefit from clinicians who are specialized in the care and treatment of people with NF and our extended care network. […] We believe providing exceptional care to individuals affected by NF1 extends beyond the patient care provided in our clinical program. […] We take a multidisciplinary approach to patient care, providing team-based clinical evaluations, laboratory services, and support.

• #15 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  In rare cases of diffuse or plexiform neurofibromas where complete surgical excision is not possible, lesions are often totally resected for cosmetic or symptomatic relief. These patients require monitoring to watch for rapid growth or recurrence at the discretion of the clinical providers. […] Appropriate diagnosis and treatment of neurofibromas depend on the collaborative efforts of an interprofessional healthcare team. It is crucial for the clinician to communicate history and physical exam findings to the pathologist, and for the pathologist to communicate diagnosis and pertinent details to the clinician, primary care provider, and nurse practitioner, and nursing staff. An accurate history and physical, diagnosis, and interprofessional communication ensure the best outcome for the patient.

• #16 Care of Individuals with Neurofibromatosis Type 1 Amid an Evolving Paradigm of Therapeutic Development

  https://practicalneurology.com/diseases-diagnoses/neuro-oncology/care-of-individuals-with-neurofibromatosis-type-1-amid-an-evolving-paradigm-of-therapeutic-development/35583/

  Treatment for individuals with neurofibromatosis type 1, a complex disease with variabilities in presentation and disease course, requires a multidisciplinary approach with emphasis on surveillance along with ongoing discussion of therapeutic interventions. […] Individuals with NF1 are recommended to undergo regular comprehensive ophthalmologic examinations, have close follow-up with a dermatologist, and be evaluated for clinical signs of pheochromocytoma with regular blood pressure checks. […] To facilitate the transition from pediatric to adult care, it is recommended that a standardized process be in place, such as using a defined age cutoff that is discussed ahead of time (most commonly 18 years) and handoff between the pediatric care provider and the primary adult care provider who will be assuming the individuals health care. […] NF1 is a complex, heterogeneous tumor predisposition syndrome that requires multidisciplinary management, close follow-up, consideration of surveillance imaging, and up-to-date knowledge of the ever-changing landscape of treatment options both available and in development for individuals with NF1.

• #17 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

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

  Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting. […] For individuals diagnosed with neurofibromatosis type 1 (NF1), routine examinations should focus on the potential complications. […] Annual examinations permit early detection of problems, decreasing morbidity and improving quality of life. […] Annual eye examinations are important in early detection of optic nerve lesions. […] Cutaneous examination performed at each visit should look for new neurofibromas or progression of preexisting lesions. Plexiform neurofibromas may be locally invasive, therefore clinical evaluation should be directed at determining the extent of involvement and detecting evidence of bony erosion or nerve entrapment. […] Blood pressure should be checked at each visit and hypertension treated promptly if detected.

• #18 Neurofibromatosis type 1 (NF1)

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

  Theres currently no cure for neurofibromatosis type 1 (NF1), but there are treatments that can help manage the symptoms and any complications. […] You’ll be supported by different healthcare professionals. This may include a brain specialist (neurologist), an eye specialist (ophthalmologist) and a skin specialist (dermatologist). […] Children will also be under the care of a doctor who specialises in the treatment of children (paediatrician). […] Treatment will depend on your symptoms and may include: medicine to stop tumours growing, surgery to remove tumours that are at risk of causing problems, using a beam of radiation to treat small tumours or pieces of a larger tumour that are left after surgery (radiotherapy). […] You or your child should have a check-up at least once a year so the symptoms can be monitored. This means any changes can be picked up early and are more likely to be successfully treated.

• #19 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

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

  Although patients with neurofibromatosis type 1 (NF1) can be cared for in the primary care setting, additional medical concerns need to be addressed on a routine basis. […] Annual examinations should focus on potential complications of NF. Each examination should include blood pressure measurement, assessment of the skin for typical lesions (including early or growing neurofibromas), visual acuity check, evaluation of the eyes for evidence of proptosis or strabismus, and examination of the spine and extremities for any abnormalities. Neurologic evaluation should include a careful history for headaches or motor or sensory symptoms as well as a comprehensive motor and sensory examination. […] Hospitalization may be necessary for major surgical procedures and workup of uncontrolled hypertension.

• #20 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

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

  Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting. […] For individuals diagnosed with neurofibromatosis type 1 (NF1), routine examinations should focus on the potential complications. […] Annual examinations permit early detection of problems, decreasing morbidity and improving quality of life. […] Annual eye examinations are important in early detection of optic nerve lesions. […] Cutaneous examination performed at each visit should look for new neurofibromas or progression of preexisting lesions. Plexiform neurofibromas may be locally invasive, therefore clinical evaluation should be directed at determining the extent of involvement and detecting evidence of bony erosion or nerve entrapment. […] Blood pressure should be checked at each visit and hypertension treated promptly if detected.

• #21 Neurofibromatosis type 1 (NF1)

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

  Children with NF1 should have their eyes checked every year (adults every 2 years). Blood pressure should be checked every year. […] 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. […] If you or your child have neurofibromatosis type 1 (NF1), healthcare professionals will be there to support you throughout your treatment.

• #22 Neurofibromatosis type 1 (NF1)

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

  Children with NF1 should have their eyes checked every year (adults every 2 years). Blood pressure should be checked every year. […] 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. […] If you or your child have neurofibromatosis type 1 (NF1), healthcare professionals will be there to support you throughout your treatment.

• #23 Pediatric Neurofibromatosis – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/neurofibromatosis

  Neurofibromatosis is a genetic condition characterized by changes to the skin pigment and growth of tumors on nerve tissue. […] While there is no cure for neurofibromatosis, effective medical care helps prevent and minimize deformities and maximize the child’s capabilities. […] Care for this complex disorder requires a multidisciplinary team of specialists. […] In general, a child or teen with NF1 should have a complete medical evaluation at least once a year. […] Since there is a higher than average risk for learning disabilities, children with NF1 should undergo a detailed neurological exam before they enter school. […] Regular eye examinations are also an important part of managing NF1. […] While there currently is no cure for NF1, effective medical care includes preventing or minimizing deformities and maximizing the child’s capabilities.

• #24 How To Manage Plexiform Neurofibroma Symptoms

  https://health.clevelandclinic.org/how-to-manage-plexiform-neurofibroma-symptoms

  Most NF1 care teams start with a neurologist or a neuro-oncologist. They’re the hub: The person in charge of coordinating your care with all the other specialists. Additional members of your multidisciplinary team may include: A mental health professional, A plastic surgeon, A physical or occupational therapist, A pain management specialist. […] An active lifestyle is an important part of plexiform neurofibroma symptom management. So is rehabilitation. If you have surgery to remove a tumor, keeping up with your physical or occupational therapy program is critical. Being aggressive about doing physical therapy [PT] when you need it can help you maintain or even regain function, Dr. Krishnaney states. […] Tracking your symptoms is a daily habit that helps your providers manage your care. The easiest way to monitor your health is to create a symptom journal. Symptom tracking is really helpful because we can catch things earlier. It’s especially helpful in cases that involve organ systems. It means we can try to preserve the organ’s function and address your symptoms.

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

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

  Our caring team of Mayo Clinic experts can help you with your neurofibromatosis type 1-related health concerns […] Generally, the sooner someone is under the care of a specialist trained in treating NF1, the better the outcome. […] 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. Many complications of NF1 can be treated effectively if therapy starts early. […] 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. […] Caring for a child with a condition such as neurofibromatosis type 1 (NF1) can be a challenge. But many children with NF1 grow up to live healthy lives with few, if any, complications. […] Find a healthcare professional you can trust and who can coordinate your child’s care with other specialists. […] Your healthcare professional may ask: When did you first notice symptoms? Have they changed over time?

• #26 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30006586/

  Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of-function variant in the tumor suppressor gene NF1; it affects ~1/1,900-1/3,500 people worldwide. The disorder is associated with an 8-15-year reduction in average life expectancy in both men and women, primarily due to malignant neoplasms and cardiovascular causes. […] Malignant peripheral nerve sheath tumor (MPNST), breast cancer, cutaneous neurofibromas, and significant psychiatric and neurologic diagnoses are common problems in patients with NF1. […] Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

• #27 Neurofibroma | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/neurofibroma

  Treatment for neurofibromas depends on the tumor’s type, size and location as well as the patient’s symptoms. If your child has a localized neurofibroma (one limited to a specific area) that isn’t causing bothersome symptoms, the doctor may recommend monitoring checking regularly for any growth or changes. Its especially important to keep an eye on plexiform neurofibromas, as they can transform into cancer. […] Children with NF1-related neurofibromas benefit by receiving care from a variety of specialists. Our Pediatric Neurofibromatosis Type 1 (NF1) Clinic provides comprehensive care from experts who work as a team. […] If a visible neurofibroma is distressing to your child, it can be surgically removed for cosmetic reasons. When neurofibromas are causing pain or neurological issues diffuse or plexiform types most often do this removing them surgically can ease symptoms. […] Other options for treating neurofibromas may be available through one of our neurofibromatosis clinical trials, studies that evaluate promising experimental therapies. Learn about the process and potential benefits of participating in a clinical trial at UCSF.

• #28 Neurofibroma Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/neurofibroma

  The treatment of spinal neurofibromas depends on the size, location, and symptoms of the tumor. Small tumors producing no pressure on nearby structures in patients with no symptoms can often be observed over time with yearly MR scans. […] For larger or symptomatic tumors, or tumors showing growth over time, surgical removal is usually recommended. In most patients, complete removal of these tumors can be safely achieved using a surgical microscope, an array of microsurgical techniques, and with the experience of doctors like those at the Spine Hospital at the Neurological Institute.

• #29 Neurofibroma: Definition, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/22535-neurofibroma

  Healthcare providers treat neurofibromas with surgery. […] Healthcare providers have several ways to treat neurofibromas: Monitoring: If your neurofibroma is benign (noncancerous) and isnt causing problems, your healthcare provider may recommend regular check-ups to monitor for changes. […] Your healthcare provider may recommend removing benign tumors that are on the surface of your skin or beneath your skin. […] If you have neurofibromas pressing on your bones or organs, your healthcare provider may recommend surgery to remove as many tumors or as much of a tumor as possible without damaging your organs and tissues. […] If thats your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.

• #30 Neurofibroma | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/neurofibroma

  Treatment for neurofibromas depends on the tumor’s type, size and location as well as the patient’s symptoms. If your child has a localized neurofibroma (one limited to a specific area) that isn’t causing bothersome symptoms, the doctor may recommend monitoring checking regularly for any growth or changes. Its especially important to keep an eye on plexiform neurofibromas, as they can transform into cancer. […] Children with NF1-related neurofibromas benefit by receiving care from a variety of specialists. Our Pediatric Neurofibromatosis Type 1 (NF1) Clinic provides comprehensive care from experts who work as a team. […] If a visible neurofibroma is distressing to your child, it can be surgically removed for cosmetic reasons. When neurofibromas are causing pain or neurological issues diffuse or plexiform types most often do this removing them surgically can ease symptoms. […] Other options for treating neurofibromas may be available through one of our neurofibromatosis clinical trials, studies that evaluate promising experimental therapies. Learn about the process and potential benefits of participating in a clinical trial at UCSF.

• #31 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  Neurofibromas are the most common peripheral nerve sheath tumor and are often found either by patients or during routine skin exams. This activity reviews the evaluation and management of neurofibromas and highlights the role of the interprofessional team in managing affected patients. […] Explain the importance of collaboration and communication amongst the interprofessional team to improve outcomes for patients affected by neurofibromas. […] Patients with neurofibromas are often asymptomatic; however, irritation, mild pruritus, pain, or paresthesia, can occur. The presentation may vary by type of neurofibroma, but the most common chief complaint is cosmetic appearance. […] For most cases, complete surgical excision is the preferred treatment, with local recurrence extremely rare. There are currently no alternative therapies for cutaneous neurofibromas.

• #32 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

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

  Symptoms of spinal cord neurofibromas may be subtle and slowly progressive; prompt identification and early surgical intervention allow for optimal outcome. […] Removal of neurofibromas for medical or cosmetic indications is one of the most common procedures on individuals with NF1. […] Surgical resection of neurofibromas can be accomplished, but plastic surgery consultation is advisable for areas of great cosmetic concern such as the face. […] Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention. […] For many patients, neurofibromas on the scalp, along the hairline, or around the waist where clothes rub can cause great irritation and discomfort. Therefore, removing these should not be considered cosmetic but a necessary medical procedure.

• #33 Neurofibroma: Definition, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/22535-neurofibroma

  Healthcare providers treat neurofibromas with surgery. […] Healthcare providers have several ways to treat neurofibromas: Monitoring: If your neurofibroma is benign (noncancerous) and isnt causing problems, your healthcare provider may recommend regular check-ups to monitor for changes. […] Your healthcare provider may recommend removing benign tumors that are on the surface of your skin or beneath your skin. […] If you have neurofibromas pressing on your bones or organs, your healthcare provider may recommend surgery to remove as many tumors or as much of a tumor as possible without damaging your organs and tissues. […] If thats your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery.

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

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

  Medical care There is no cure for neurofibromatosis. Patients should be routinely monitored for complications. Annual examinations should include the following: […] Surgical care Surgery can be used to remove tumors that cause pain or a loss of function. Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention.

• #35 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  In rare cases of diffuse or plexiform neurofibromas where complete surgical excision is not possible, lesions are often totally resected for cosmetic or symptomatic relief. These patients require monitoring to watch for rapid growth or recurrence at the discretion of the clinical providers. […] Appropriate diagnosis and treatment of neurofibromas depend on the collaborative efforts of an interprofessional healthcare team. It is crucial for the clinician to communicate history and physical exam findings to the pathologist, and for the pathologist to communicate diagnosis and pertinent details to the clinician, primary care provider, and nurse practitioner, and nursing staff. An accurate history and physical, diagnosis, and interprofessional communication ensure the best outcome for the patient.

• #36 Neurofibroma | UCSF Brain Tumor Center

  https://braintumorcenter.ucsf.edu/condition/neurofibroma

  Neurofibromas that are causing pain or impairing neurological function typically diffuse or plexiform neurofibromas may be surgically removed to alleviate symptoms. However, complete surgical resection of plexiform neurofibromas may not be possible, since these tumors grow diffusely along nerves and cannot usually be separated from the functioning portion of the nerve. […] Many neurofibromas are mild or asymptomatic, and can be surgically removed for cosmetic reasons. For other neurofibromas, primarily diffuse and plexiform neurofibromas, surgery typically alleviates pain and other symptoms. […] For NF-1 associated plexiform neurofibromas, it is best to surgically remove as much of the tumor as possible.

• #37 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

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

  Acting promptly when neurological symptoms appear is important to maximize operative success. […] Surgical intervention may not guarantee a complete resection of the tumor, but it may serve a palliative function in some cases. […] Orthopedic intervention is indicated for rapidly progressive scoliosis and for some severe bony defects. […] Following patients with NF1 when scoliosis is first detected is advisable, so that nonsurgical approaches may be used in an attempt to obviate the need for a future spinal fusion procedure. […] Some hypertensive patients with renal artery stenosis require surgical resection and repair instead of or following angioplasty.

• #38 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

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

  Acting promptly when neurological symptoms appear is important to maximize operative success. […] Surgical intervention may not guarantee a complete resection of the tumor, but it may serve a palliative function in some cases. […] Orthopedic intervention is indicated for rapidly progressive scoliosis and for some severe bony defects. […] Following patients with NF1 when scoliosis is first detected is advisable, so that nonsurgical approaches may be used in an attempt to obviate the need for a future spinal fusion procedure. […] Some hypertensive patients with renal artery stenosis require surgical resection and repair instead of or following angioplasty.

• #39 Neurofibroma Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/spine/conditions/tumors-lesions/neurofibroma

  If symptoms suggest that the tumor is compressing the spinal cord, corticosteroids are immediately given in high doses to reduce the swelling. These tumors are treated as soon as possible, usually surgically. Because of the risk of nerve damage during surgery, tumors that are not causing symptoms may be left untreated. […] Many neurofibromas can be removed surgically. If tumors cannot be fully removed, radiation therapy may be used to relieve pressure on the spinal cord. UPMC neurosurgeons may also treat neurofibromas with stereotactic spine radiosurgery, which is a minimally invasive technique that uses highly focused beams of radiation to target spinal tumors. The beams destroy the tissue that a surgeon would otherwise need to remove with a scalpel during a traditional operation. The precision of this surgery results in minimal damage to the healthy tissue surrounding the tumor, and a lower risk of side effects compared with traditional surgery.

• #40 Neurofibroma Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/spine/conditions/tumors-lesions/neurofibroma

  If symptoms suggest that the tumor is compressing the spinal cord, corticosteroids are immediately given in high doses to reduce the swelling. These tumors are treated as soon as possible, usually surgically. Because of the risk of nerve damage during surgery, tumors that are not causing symptoms may be left untreated. […] Many neurofibromas can be removed surgically. If tumors cannot be fully removed, radiation therapy may be used to relieve pressure on the spinal cord. UPMC neurosurgeons may also treat neurofibromas with stereotactic spine radiosurgery, which is a minimally invasive technique that uses highly focused beams of radiation to target spinal tumors. The beams destroy the tissue that a surgeon would otherwise need to remove with a scalpel during a traditional operation. The precision of this surgery results in minimal damage to the healthy tissue surrounding the tumor, and a lower risk of side effects compared with traditional surgery.

• #41 Plexiform Neurofibroma Tumors | Research and Clinical Trials | NTAP

  https://www.n-tap.org/who-we-are/plexiform-tumors

  Radiation therapy is reserved for patients with proven malignancy and plays a very limited role in the management of pNF tumors. […] Selumetinib is approved for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable pNFs. Other MEK inhibitors including binimetinib, mirdametinib, trametinib and the multi-kinase inhibitor cabozantinib have also showed benefit in clinical trials for pNFs in adults or pediatric populations. Combination therapy studies are in development to improve the overall response rate, durability of response, depth of response and to improve the tolerability of long term targeted therapy. Ongoing challenges are identification of individualized treatment schedules (including necessary duration of treatment in adults and pediatric populations), long-term safety monitoring of MEK inhibitors, strategies to prevent pNF growth in children and new targets for tumors that are non-responsive to current drug therapies.

• #42 Plexiform Neurofibroma Tumors | Research and Clinical Trials | NTAP

  https://www.n-tap.org/who-we-are/plexiform-tumors

  Radiation therapy is reserved for patients with proven malignancy and plays a very limited role in the management of pNF tumors. […] Selumetinib is approved for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable pNFs. Other MEK inhibitors including binimetinib, mirdametinib, trametinib and the multi-kinase inhibitor cabozantinib have also showed benefit in clinical trials for pNFs in adults or pediatric populations. Combination therapy studies are in development to improve the overall response rate, durability of response, depth of response and to improve the tolerability of long term targeted therapy. Ongoing challenges are identification of individualized treatment schedules (including necessary duration of treatment in adults and pediatric populations), long-term safety monitoring of MEK inhibitors, strategies to prevent pNF growth in children and new targets for tumors that are non-responsive to current drug therapies.

• #43 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Management options include medications like gabapentin and pregabalin for nerve pain. […] Frequent screenings for hearing and vision are essential. […] Regular appointments with audiologists and ophthalmologists are recommended for those with neurofibromatosis. […] Physical therapy can be pivotal in symptom management for neurofibromatosis. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Individual therapy, family therapy, and support groups provide a supportive environment for individuals and families. […] It is recommended that patients seek help from mental health professionals familiar with genetic conditions and the unique challenges of neurofibromatosis. […] Nutritional needs can vary based on individual circumstances, so its advisable to meet with a registered dietitian to determine the proper diet. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. […] Regular check-ups with healthcare providers, including neurologists, dermatologists, audiologists, and ophthalmologists, are recommended. […] Education plays a pivotal role in managing neurofibromatosis.

• #44 Neurofibroma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibroma/diagnosis-treatment/drc-20573721

  To diagnose a neurofibroma, your healthcare professional gives you a physical exam and reviews your medical history. […] Neurofibroma treatment isn’t needed for a single tumor with no symptoms. Healthcare professionals usually monitor the neurofibroma. Surgery may be needed if the tumor is causing symptoms or for cosmetic reasons. […] After surgery, you may need physical rehabilitation. Physical therapists and occupational therapists can guide you through exercises that keep your muscles and joints active. Rehabilitation also helps prevent stiffness and restore your function and feeling.

• #45 How To Manage Plexiform Neurofibroma Symptoms

  https://health.clevelandclinic.org/how-to-manage-plexiform-neurofibroma-symptoms

  Most NF1 care teams start with a neurologist or a neuro-oncologist. They’re the hub: The person in charge of coordinating your care with all the other specialists. Additional members of your multidisciplinary team may include: A mental health professional, A plastic surgeon, A physical or occupational therapist, A pain management specialist. […] An active lifestyle is an important part of plexiform neurofibroma symptom management. So is rehabilitation. If you have surgery to remove a tumor, keeping up with your physical or occupational therapy program is critical. Being aggressive about doing physical therapy [PT] when you need it can help you maintain or even regain function, Dr. Krishnaney states. […] Tracking your symptoms is a daily habit that helps your providers manage your care. The easiest way to monitor your health is to create a symptom journal. Symptom tracking is really helpful because we can catch things earlier. It’s especially helpful in cases that involve organ systems. It means we can try to preserve the organ’s function and address your symptoms.

• #46 How To Manage Plexiform Neurofibroma Symptoms

  https://health.clevelandclinic.org/how-to-manage-plexiform-neurofibroma-symptoms

  Another way to preserve your independence is to use assistive devices. Assistive devices are tools that help you perform activities of daily living (ADLs). People with NF1 often need to use assistive devices sometimes temporarily, sometimes permanently to address the impairments their tumors cause. […] If you give it a few days and it gets better, it’s probably fine, he says. But if it’s not getting better after a few days or a week, that’s when you should call your provider. Having an experienced neuro-oncologist or neurologist follow you long term is important, he emphasizes. They’ll know your usual symptoms and where your tumors are.

• #47 Self-Care Tips for Young Adults with NF1-PN

  https://www.healthline.com/health/nf1-pn-self-care

  Living with a chronic condition such as NF1-PN can be challenging and stressful. It might negatively affect your sense of self, body image, or mental well-being. […] Getting regular exercise is important for overall health and can also help manage specific symptoms of NF1. […] Connecting with other people who have NF1-PN may help you find information, resources, and support for managing your condition. […] You might find that symptoms or complications of NF1 or PN affect your ability to complete certain tasks or participate in certain activities at school or work. […] Learning more about NF1-PN, connecting with a specialist, and getting regular health checkups and recommended health screenings are important for managing your condition.

• #48 Support for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/support

  A dedicated, full-time nurse coordinator and family nurse practitioner are assigned to help people with neurofibromatosis and their families find the medical, surgical, and supportive services they need at NYU Langone. […] These nurses and their supervising physicians are available to assist you and your family as any needs or questions arise during treatment. […] NYU Langones supportive care team is available to provide relief from any discomfort or pain associated with neurofibromatosis or its treatments. […] Side effect management may include additional medications, integrative therapies, or both. […] Counseling can often help to manage any stress or anxiety adults or children and their families may be experiencing with a diagnosis of neurofibromatosis. […] Our social workers and financial counselors are available to help people cope with financial, social, and physical challenges.

• #49 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Management options include medications like gabapentin and pregabalin for nerve pain. […] Frequent screenings for hearing and vision are essential. […] Regular appointments with audiologists and ophthalmologists are recommended for those with neurofibromatosis. […] Physical therapy can be pivotal in symptom management for neurofibromatosis. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Individual therapy, family therapy, and support groups provide a supportive environment for individuals and families. […] It is recommended that patients seek help from mental health professionals familiar with genetic conditions and the unique challenges of neurofibromatosis. […] Nutritional needs can vary based on individual circumstances, so its advisable to meet with a registered dietitian to determine the proper diet. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. […] Regular check-ups with healthcare providers, including neurologists, dermatologists, audiologists, and ophthalmologists, are recommended. […] Education plays a pivotal role in managing neurofibromatosis.

• #50 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Management options include medications like gabapentin and pregabalin for nerve pain. […] Frequent screenings for hearing and vision are essential. […] Regular appointments with audiologists and ophthalmologists are recommended for those with neurofibromatosis. […] Physical therapy can be pivotal in symptom management for neurofibromatosis. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Individual therapy, family therapy, and support groups provide a supportive environment for individuals and families. […] It is recommended that patients seek help from mental health professionals familiar with genetic conditions and the unique challenges of neurofibromatosis. […] Nutritional needs can vary based on individual circumstances, so its advisable to meet with a registered dietitian to determine the proper diet. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. […] Regular check-ups with healthcare providers, including neurologists, dermatologists, audiologists, and ophthalmologists, are recommended. […] Education plays a pivotal role in managing neurofibromatosis.

• #51 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Management options include medications like gabapentin and pregabalin for nerve pain. […] Frequent screenings for hearing and vision are essential. […] Regular appointments with audiologists and ophthalmologists are recommended for those with neurofibromatosis. […] Physical therapy can be pivotal in symptom management for neurofibromatosis. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Individual therapy, family therapy, and support groups provide a supportive environment for individuals and families. […] It is recommended that patients seek help from mental health professionals familiar with genetic conditions and the unique challenges of neurofibromatosis. […] Nutritional needs can vary based on individual circumstances, so its advisable to meet with a registered dietitian to determine the proper diet. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. […] Regular check-ups with healthcare providers, including neurologists, dermatologists, audiologists, and ophthalmologists, are recommended. […] Education plays a pivotal role in managing neurofibromatosis.

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

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

  Our interdisciplinary team tailors care to your child. We are experienced in treating the wide range of complications that may happen in different forms of NF. As your child grows, our team watches closely for early signs of problems so we can treat them right away. […] If your child needs treatment for tumors, options include surgery, targeted therapies (MEK inhibitors), chemotherapy and, rarely, radiation therapy. […] Our doctors, nurses, child life specialists and social workers help your child and your family through the challenges of their condition. We connect you to community resources and support groups. […] Seattle Children’s Neurofibromatosis Program provides the most advanced treatment options from the nation’s top leaders in neuroscience and cancer research. We give your child complete, coordinated care. There is no cure for NF1, but yearly check-ups help find problems early and treat the effects.

• #53 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Children with NF1 should be checked for height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or 12-month intervals. […] Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups.

• #54 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Children with NF1 should be checked for height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or 12-month intervals. […] Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups.

• #55 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Children with NF1 should be checked for height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or 12-month intervals. […] Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups.

• #56 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  Children with NF1 should be checked for height, weight, head circumference, evidence of normal sexual development, signs of learning disability and/or behavioral issues. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or 12-month intervals. […] Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss. Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups.

• #57 Neurofibromatosis type 1 (NF1)

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

  Children with NF1 should have their eyes checked every year (adults every 2 years). Blood pressure should be checked every year. […] Your care team will be able to speak to you about this if you want to know more. […] 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. […] If you or your child have neurofibromatosis type 1 (NF1), healthcare professionals will be there to support you throughout your treatment.

• #58 Self-Care Tips for Young Adults with NF1-PN

  https://www.healthline.com/health/nf1-pn-self-care

  Most NF1-PNs cannot be fully removed with surgery or other treatments. Therefore, its important to take steps to manage the condition and reach out to others for support as you enter adulthood. […] Regular checkups with your healthcare team are important for managing NF1-PN and other symptoms or complications of NF1. […] You might find it helpful to ask a friend or family member to attend checkups with you. […] Most NF1-PNs are not cancerous, but they can sometimes change into a type of cancer known as a malignant peripheral nerve sheath tumor (MPNST). […] Ask your doctor whether you should get screening tests or exams to check for health conditions that are more common in people with NF1, such as high blood pressure and breast cancer. […] While its possible to have a healthy pregnancy if you have NF1-PN, hormonal changes during pregnancy may cause an increase in PNs.

• #59 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30006586/

  Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of-function variant in the tumor suppressor gene NF1; it affects ~1/1,900-1/3,500 people worldwide. The disorder is associated with an 8-15-year reduction in average life expectancy in both men and women, primarily due to malignant neoplasms and cardiovascular causes. […] Malignant peripheral nerve sheath tumor (MPNST), breast cancer, cutaneous neurofibromas, and significant psychiatric and neurologic diagnoses are common problems in patients with NF1. […] Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

• #60 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Management options include medications like gabapentin and pregabalin for nerve pain. […] Frequent screenings for hearing and vision are essential. […] Regular appointments with audiologists and ophthalmologists are recommended for those with neurofibromatosis. […] Physical therapy can be pivotal in symptom management for neurofibromatosis. […] Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Individual therapy, family therapy, and support groups provide a supportive environment for individuals and families. […] It is recommended that patients seek help from mental health professionals familiar with genetic conditions and the unique challenges of neurofibromatosis. […] Nutritional needs can vary based on individual circumstances, so its advisable to meet with a registered dietitian to determine the proper diet. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. […] Regular check-ups with healthcare providers, including neurologists, dermatologists, audiologists, and ophthalmologists, are recommended. […] Education plays a pivotal role in managing neurofibromatosis.

• #61

  https://journals.lww.com/nursing/fulltext/2019/04000/caring_for_children_with_neurofibromatosis_type_1.10.aspx

  Caring for children with neurofibromatosis type 1 […] GENERAL PURPOSE: To present an overview of NF1 in children. […] LEARNING OBJECTIVES/OUTCOMES: After completing this continuing-education activity, you should be able to: 1. Explain the pathophysiology of NF1. 2. List the various clinical manifestations of NF1. 3. Plan appropriate interventions for children with NF1. […] In specialty clinics that provide care for children with NF1, a major nursing focus is preventing complications. […] School nurses should help ensure that children with NF1 can participate as much as possible in the regular academic curriculum.

• #62

  https://journals.lww.com/nursing/fulltext/2019/04000/caring_for_children_with_neurofibromatosis_type_1.10.aspx

  Caring for children with neurofibromatosis type 1 […] GENERAL PURPOSE: To present an overview of NF1 in children. […] LEARNING OBJECTIVES/OUTCOMES: After completing this continuing-education activity, you should be able to: 1. Explain the pathophysiology of NF1. 2. List the various clinical manifestations of NF1. 3. Plan appropriate interventions for children with NF1. […] In specialty clinics that provide care for children with NF1, a major nursing focus is preventing complications. […] School nurses should help ensure that children with NF1 can participate as much as possible in the regular academic curriculum.

• #63 Support for Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/support

  A dedicated, full-time nurse coordinator and family nurse practitioner are assigned to help people with neurofibromatosis and their families find the medical, surgical, and supportive services they need at NYU Langone. […] These nurses and their supervising physicians are available to assist you and your family as any needs or questions arise during treatment. […] NYU Langones supportive care team is available to provide relief from any discomfort or pain associated with neurofibromatosis or its treatments. […] Side effect management may include additional medications, integrative therapies, or both. […] Counseling can often help to manage any stress or anxiety adults or children and their families may be experiencing with a diagnosis of neurofibromatosis. […] Our social workers and financial counselors are available to help people cope with financial, social, and physical challenges.

• #64 Neurofibroma | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/neurofibroma

  Treatment for neurofibromas depends on the tumor’s type, size and location as well as the patient’s symptoms. If your child has a localized neurofibroma (one limited to a specific area) that isn’t causing bothersome symptoms, the doctor may recommend monitoring checking regularly for any growth or changes. Its especially important to keep an eye on plexiform neurofibromas, as they can transform into cancer. […] Children with NF1-related neurofibromas benefit by receiving care from a variety of specialists. Our Pediatric Neurofibromatosis Type 1 (NF1) Clinic provides comprehensive care from experts who work as a team. […] If a visible neurofibroma is distressing to your child, it can be surgically removed for cosmetic reasons. When neurofibromas are causing pain or neurological issues diffuse or plexiform types most often do this removing them surgically can ease symptoms. […] Other options for treating neurofibromas may be available through one of our neurofibromatosis clinical trials, studies that evaluate promising experimental therapies. Learn about the process and potential benefits of participating in a clinical trial at UCSF.

• #65 Plexiform Neurofibroma Tumors | Research and Clinical Trials | NTAP

  https://www.n-tap.org/who-we-are/plexiform-tumors

  Radiation therapy is reserved for patients with proven malignancy and plays a very limited role in the management of pNF tumors. […] Selumetinib is approved for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable pNFs. Other MEK inhibitors including binimetinib, mirdametinib, trametinib and the multi-kinase inhibitor cabozantinib have also showed benefit in clinical trials for pNFs in adults or pediatric populations. Combination therapy studies are in development to improve the overall response rate, durability of response, depth of response and to improve the tolerability of long term targeted therapy. Ongoing challenges are identification of individualized treatment schedules (including necessary duration of treatment in adults and pediatric populations), long-term safety monitoring of MEK inhibitors, strategies to prevent pNF growth in children and new targets for tumors that are non-responsive to current drug therapies.

• #66 Plexiform Neurofibroma Tumors | Research and Clinical Trials | NTAP

  https://www.n-tap.org/who-we-are/plexiform-tumors

  Radiation therapy is reserved for patients with proven malignancy and plays a very limited role in the management of pNF tumors. […] Selumetinib is approved for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable pNFs. Other MEK inhibitors including binimetinib, mirdametinib, trametinib and the multi-kinase inhibitor cabozantinib have also showed benefit in clinical trials for pNFs in adults or pediatric populations. Combination therapy studies are in development to improve the overall response rate, durability of response, depth of response and to improve the tolerability of long term targeted therapy. Ongoing challenges are identification of individualized treatment schedules (including necessary duration of treatment in adults and pediatric populations), long-term safety monitoring of MEK inhibitors, strategies to prevent pNF growth in children and new targets for tumors that are non-responsive to current drug therapies.

• #67 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  In rare cases of diffuse or plexiform neurofibromas where complete surgical excision is not possible, lesions are often totally resected for cosmetic or symptomatic relief. These patients require monitoring to watch for rapid growth or recurrence at the discretion of the clinical providers. […] Appropriate diagnosis and treatment of neurofibromas depend on the collaborative efforts of an interprofessional healthcare team. It is crucial for the clinician to communicate history and physical exam findings to the pathologist, and for the pathologist to communicate diagnosis and pertinent details to the clinician, primary care provider, and nurse practitioner, and nursing staff. An accurate history and physical, diagnosis, and interprofessional communication ensure the best outcome for the patient.

• #68 Neurofibromatosis Care | Roswell Park Comprehensive Cancer Center – Buffalo, NY

  https://www.roswellpark.org/screening-prevention/genetic-testing/neurofibromatosis-care

  Lifelong monitoring, early cancer detection and timely treatment is essential for optimal survival and quality of life. […] We take a comprehensive approach, looking at the big picture of what it means to have neurofibromatosis, managing issues specific to NF while also monitoring your health as a whole person.

• #69 Self-Care Tips for Young Adults with NF1-PN

  https://www.healthline.com/health/nf1-pn-self-care

  Living with a chronic condition such as NF1-PN can be challenging and stressful. It might negatively affect your sense of self, body image, or mental well-being. […] Getting regular exercise is important for overall health and can also help manage specific symptoms of NF1. […] Connecting with other people who have NF1-PN may help you find information, resources, and support for managing your condition. […] You might find that symptoms or complications of NF1 or PN affect your ability to complete certain tasks or participate in certain activities at school or work. […] Learning more about NF1-PN, connecting with a specialist, and getting regular health checkups and recommended health screenings are important for managing your condition.

Zobacz więcej