Neurofibromatosis Type 1 and Other Human Deformities

**chris** · #1 ● 02-13-2009, 08:45 PM

Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in skin color and tumors along nerves. Other conditions can also produce facial masses and wounds. Most adults with NF1 develop neurofibromas, which are benign tumors on or under the skin. Light-brown patches called café-au-lait spots often appear in early childhood.

NF1 affects about 1 in 3,000 to 4,000 people worldwide. It results from changes in the NF1 gene, which produces a tumor-suppressing protein called neurofibromin. About half of cases are inherited; the rest arise from new mutations without a family history. Some people develop malignant peripheral nerve sheath tumors, usually during adolescence or adulthood. Other features can include scoliosis, learning disabilities and tumors affecting the optic nerves.