Understanding neurofibromatosis

Neurofibromatosis refers to three genetic disorders characterized by tumor growth in tissue surrounding nerves. NF1 is the most common, occurring in 1 in 3,000 individuals. It can affect multiple organs, including the skin, brain and eyes. In about half the cases, NF1 appears as cafe-au-lait spots and bumps under the skin that require no treatment. In the other half, complications can include blindness, scoliosis and disfigurement.

Cause: NF1 is caused by a mutation in the gene responsible for producing neurofibromin, a protein that regulates cell division.

Treatment: There is no cure. However, drug therapies are being developed to target the biological mechanisms that control cell growth in NF1 tumors, and clinical trials are under way to test whether certain cancer treatments can fight the tumors.

For more information: the Children's Tumor Foundation and Neurofibromatosis Inc..

Both are nonprofit organizations that raise money for research and education and provide referrals to doctors and support groups.

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