Neurofibromatosis

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Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. Most tumors are benign, but some are cancerous. They often involve the skin or surrounding bone. Symptoms are often mild, and each condition presents differently. Neurofibromatosis type I (NF1) is typically characterised by café au lait spots (flat patches of light brown skin), neurofibromas (small bumps in or under the skin), scoliosis (sideways curvature of the spine), and headaches. Neurofibromatosis type II (NF2) may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy. The third type is schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression. The cause is a genetic mutation in certain oncogenes. About half of cases are inherited, and half spontaneously occur during early development. Different mutations result in the three types...

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