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