Neurofibromatosis, often abbreviated as NF, is an incurable hereditary disorder that affects the nervous system and the skin . NF may range in severity from a mild disorder to a severely disfiguring one. There are two forms of the disorder, called NF-1 and NF-2.
NF-1, also called Von Recklinghausen’s disease, is more common and less severe. It occurs in about 1 out of every 4,000 births. The major signs are flat, light brown spots on the skin called cafe-au-lait spots, and benign (noncancerous) tumors of the nerves. The tumors, called neurofibromas, often develop just beneath the surface of the skin, producing small to large skin growths. Tumors may affect many other parts of the body, including the bones. Many people with NF-1 have scoliosis (curvature of the spine). In some cases, tumors affect vital organs, and NF-1 may be life-threatening. Cafe-au-lait spots are usually present at birth. Neurofibromas usually appear at puberty.
NF-2, also called bilateral acoustic neurofibromatosis, is much rarer than NF-1, occurring in about 1 out of every 50,000 births. NF-2 is characterized by tumors in the brain, on the spinal cord, and on the nerves that control hearing. The tumors may lead to deafness, chronic headache, vision problems, partial paralysis, and, eventually, death. The first signs of NF-2 usually appear in the teens or early twenties.
The child of a person with NF has a 50 percent chance of inheriting the disorder. However, about half of all NF victims have no family history of the disorder. There is no treatment other than surgical removal of the tumors. However, hopes for finding a treatment were raised in 1990, when researchers identified the gene responsible for NF-1. This gene produces a protein, called neurofibromin, that researchers believe causes the disorder.
NF is sometimes called elephant man’s disease after the Englishman Joseph Merrick , whose disfigurement was mistakenly thought to have been caused by NF. In the 1980’s, experts concluded that Merrick actually had an even more rare disease called Proteus syndrome.
