Neurofibromatosis
Neurofibromatosis | |
---|---|
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Synonyms | N/A |
Pronounce | N/A |
Field | Neurosurgery, Genetics |
Symptoms | Skin lumps, scoliosis, hearing loss, vision loss[1] |
Complications | Tumor growth, neurological issues, learning disabilities |
Onset | Birth to early adulthood[1] |
Duration | Lifelong[1] |
Types | Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), Schwannomatosis[1] |
Causes | Genetic mutation (inherited or spontaneous)[1] |
Risks | N/A |
Diagnosis | Clinical symptoms, genetic testing, imaging studies[2] |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Surgery, radiation therapy, chemotherapy, cochlear implants[2] |
Medication | N/A |
Prognosis | NF1: normal life expectancy[1] NF2: shortened life expectancy[1] |
Frequency | 1 in 3,000 people (United States)[1] |
Deaths | N/A |
Neurofibromatosis (NF) is a group of genetic disorders that cause the growth of tumors in the nervous system.[1] It includes three distinct conditions:
- Neurofibromatosis type 1 (NF1) – More common, involves skin changes and nerve tumors.
- Neurofibromatosis type 2 (NF2) – Characterized by tumors affecting the auditory nerves, leading to hearing loss.
- Schwannomatosis – Causes painful nerve tumors but does not typically affect hearing.
The tumors in neurofibromatosis are generally benign (non-cancerous), but they can sometimes become malignant.[1]
Signs and Symptoms[edit | edit source]
The symptoms vary depending on the type of neurofibromatosis and may include:
Neurofibromatosis Type 1 (NF1)[edit | edit source]
- Skin changes – Café au lait spots, freckling in the underarms or groin.
- Nerve tumors – Neurofibromas, which can appear under the skin or deeper in the body.
- Bone abnormalities – Scoliosis (curved spine) or abnormal bone development.
- Learning disabilities – Mild intellectual disability or attention deficit issues.
- Eye involvement – Lisch nodules (tiny brown spots on the iris), optic gliomas (tumors affecting vision).
Neurofibromatosis Type 2 (NF2)[edit | edit source]
- Hearing loss – Due to bilateral vestibular schwannomas (tumors on the auditory nerves).
- Balance issues – Difficulty with coordination and dizziness.
- Vision problems – Early cataracts and other eye issues.
- Facial weakness or numbness – Due to tumors affecting cranial nerves.
Schwannomatosis[edit | edit source]
- Chronic pain – Often the first symptom.
- Multiple schwannomas – Benign tumors along nerves, but without affecting hearing.
- Nerve compression symptoms – Tingling, weakness, or numbness in affected areas.
Causes and Genetics[edit | edit source]
Neurofibromatosis is genetic, caused by mutations in different genes:
- NF1 – Mutation in the NF1 gene on chromosome 17, affecting neurofibromin, a tumor suppressor.
- NF2 – Mutation in the NF2 gene on chromosome 22, affecting merlin, another tumor suppressor.
- Schwannomatosis – Mutations in the SMARCB1 or LZTR1 genes, also on chromosome 22.
NF is an autosomal dominant disorder, meaning only one parent needs to have the mutation for a child to inherit it. However, about 50% of cases arise from a spontaneous mutation, with no family history.[2]
Diagnosis[edit | edit source]
The diagnosis is based on:
- Clinical symptoms – Skin findings, nerve tumors, hearing issues.
- Medical imaging – MRI or CT scans to detect tumors.
- Genetic testing – Confirms the presence of NF-related mutations.
- Eye exams – To check for Lisch nodules or optic gliomas.
Treatment and Management[edit | edit source]
There is no cure for neurofibromatosis, but treatment focuses on managing symptoms and complications.
Surgical and Medical Interventions[edit | edit source]
- Tumor removal – If tumors cause significant symptoms, surgery may be required.
- Radiation therapy – Used for tumors that cannot be surgically removed.
- Chemotherapy – In cases where tumors become cancerous.
- Hearing aids or cochlear implants – Help manage hearing loss in NF2.
Supportive Care[edit | edit source]
- Physical therapy – Helps with movement and balance issues.
- Pain management – Medications for schwannomatosis-related chronic pain.
- Educational support – For NF1-related learning disabilities.
Prognosis[edit | edit source]
The outlook depends on the type:
- NF1 – Generally mild, with a normal life expectancy.
- NF2 – More severe; hearing loss and neurological complications may shorten life expectancy.
- Schwannomatosis – Pain is the main concern, but it does not typically affect lifespan.
Epidemiology[edit | edit source]
- NF1 affects 1 in 3,000 people.
- NF2 affects 1 in 25,000 people.
- Schwannomatosis affects 1 in 40,000 people.
Males and females are affected equally.[1]
History[edit | edit source]
- 1st Century – Early descriptions of neurofibromatosis.
- 1882 – Friedrich Daniel von Recklinghausen formally describes NF1.
- 1990s-Present – Advancements in genetic testing and targeted therapies.
Related Conditions[edit | edit source]
See Also[edit | edit source]
External Links[edit | edit source]
- National Institute of Neurological Disorders and Stroke – Neurofibromatosis Information
- Neurofibromatosis Network
- Genome.gov – NF Information
Classification | |
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External resources |
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Contributors: Prab R. Tumpati, MD