Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally non-cancerous.The cause is a genetic mutation in certain oncogenes. These can be inherited from a persons parents, or in about half of cases spontaneously occur during early development. Different mutations result in the three types of NF. Neurofibromatosis arise from the supporting cells of the nervous system rather than the neurons themselves. In NF1, the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. Diagnosis is typically based on symptoms, examination, medical imaging, and biopsy. Genetic testing may rarely be done to support the diagnosis.There is no known prevention or cure. Surgery may be done to remove tumors that are causing problems or have become cancerous. Radiation and chemotherapy may also be used if cancer occurs.
Cause
The three types of Neurofibromatosis are caused by different mutations on chromosomes. NF1 is caused by a mutation on the NF1 gene on the arm of chromosome 17. NF2 is caused by a mutation on the NF2 tumor suppressor gene on chromosome 22. Schwannomatosis is caused by various mutations on chromosome 22.Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity of the parents condition does not affect the child; the affected child may have mild NF1 even though it was inherited from a parent with a severe form of the disorder. The types of neurofibromatosis are:

Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign, but may cause serious damage by compressing nerves and other tissues. Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss. Schwannomatosis, in which painful schwannomas develop on spinal and peripheral nerves. Pathophysiology
Neurofibromatosis type I is caused by a mutation on chromosome 17 encoding a cytoplasmic protein known as neurofibromin. This protein is a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation. A dysfunction or lack of neurofibromin can affect regulation, and cause uncontrolled cell proliferation, leading to the tumors (neurofibromas) that characterize NF1.