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What is Neurofibromatosis?

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  • Written By: A Kaminsky
  • Edited By: Bronwyn Harris
  • Last Modified Date: 09 September 2016
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When people were talking about the Elephant Man, Joseph Merrick, in the early 1980s, the general consensus was that he had neurofibromatosis. Later examinations of his case and even his skeleton have led experts to determine he probably had a mysterious disease called Proteus Syndrome. However, neurofibromatosis is also a real disease that causes tumors to grow on nerves, as well as other abnormalities.

There are two types of neurofibromatosis. NF1 is the less serious version of the disease and occurs in one out of every 4,000 or so births. It is often diagnosed early due to the presence of “café au lait” spots on the skin. The neurofibromas are generally small and can be removed if they are causing cosmetic disfigurement or are pressing on vital organs.

NF1 patients sometimes may also have scoliosis as children or other bone deformities. However, most people with neurofibromatosis type I will live normal lives, and many will have few, if any problems, relating to the disorder. Some children will have seizures when they are young, or perhaps speech impairment, but medication and speech therapy have proven very effective in helping these children live normally.

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Neurofibromatosis type 2 is a different story. NF 2 affects about one in every 50,000 births and is more severe on every level. With NF2, patients may develop tumors on the nerves in their ears, eventually causing deafness. Tumors may also appear on the spinal cord or brain. Fortunately, only about 3 to 5 percent of neurofibromas ever become cancerous. However, parents need to keep a check on their child’s tumors, and if one shows noticeable growth, the parents should call their pediatrician immediately.

Children who have NF1 and stay healthy into adulthood have a good chance of remaining healthy and living a normal lifespan. Support groups are available, both for those who have neurofibromatosis, and those who have children with the disease.

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