Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow, and it causes tumours to grow on nerves. The tumours are usually benign, but sometimes become cancerous.
It can be inherited from a parent, or arise from a new mutation (change) in a person's genes. Anyone who has it can pass it on to their children.
Three types
| Type | Main effects | When it starts |
|---|---|---|
| Type 1 (NF1) | Skin changes and deformed bones | Usually in childhood; sometimes present at birth |
| Type 2 (NF2) | Hearing loss, ringing in the ears, poor balance | Often in the teenage years |
| Schwannomatosis | Intense pain; the rarest type |
Diagnosis and treatment
Doctors tell the types apart by their symptoms, and genetic testing is also used to diagnose NF1 and NF2. There is no cure, but treatment can help control symptoms. Depending on the type and how severe it is, treatment may include surgery to remove tumours, radiation therapy and medicines.
Sources
- MedlinePlus, U.S. National Library of Medicine, "Neurofibromatosis," from the NIH National Institute of Neurological Disorders and Stroke. https://medlineplus.gov/neurofibromatosis.html
- Rewritten in hubnx's own words.
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