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Definition
By Mayo Clinic staffNeurofibromatosis is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissue. These tumors may develop anywhere in your nervous system, including in your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
The tumors are usually noncancerous (benign), but in some cases these tumors become cancerous (malignant) tumors. People with neurofibromatosis often experience only mild symptoms. Effects of neurofibromatosis can range from hearing loss, learning impairment, and heart and blood vessel (cardiovascular) complications to severe disability due to nerve compression by tumors, loss of vision and severe pain.
Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery may help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery, medications to control pain or physical therapy.
- Neurofibromatosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed Oct. 12, 2012.
- Torpy JM, et al. Neurofibromatosis. Journal of the American Medical Association. 2009;302:2170.
- Plon SE. Neurofibromatosis type 1 (von Recklinghausen's disease). http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Evans DG. Neurofibromatosis type 2. http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Dashe JF, et al. Overview of schwannomatosis. http://www.uptodate.com/index. Accessed Oct. 12, 2012.
- Schwannomatosis. Neurofibromatosis Network. http://www.nfnetwork.org/understanding-nf/what-is-nf/schwannomatosis. Accessed Oct. 16, 2012.
- Ferner RE. The neurofibromatoses. Practical Neurology. 2010;10:82.
- Find a local chapter. Children's Tumor Foundation. http://www.ctf.org/Chapter-Resources/Find-a-Local-Chapter-or-Affiliate.html. Accessed Oct. 19, 2012.
- Local groups. Neurofibromatosis Network. http://www.nfnetwork.org/nf-community-near-you/local-groups. Accessed Oct. 19, 2012.
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 26, 2012.
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