Neurofibromatosis is a term that describes a group of disorders that involve tumors that grow within the nervous system. These tumors grow in the thin membrane that protects and surrounds the nerves.
There are three distinct types of neurofibromatosis:
Most tumors are benign (non-cancerous) but some do become cancerous. Mutations in genes are the cause of neurofibromatosis and these mutations prevent the normal productions of proteins and cause cells to multiply rapidly and form the tumors.
The symptoms of a neurofibromatosis depend on what kind you have. NF1 is characterized by freckling in the groin or armpit area, scoliosis, abnormal development of the temple bone in the skull or the tibia, a tumor on the optic nerve, and six or more spots on the skin that are light brown and 5 mm or more in width for children and 15 mm or more in width for adults. There is also usually a parent or sibling in the family that also has NF1.
NF2 and schwannomatosis symptoms include a parent or sibling with NF2 and a schwannoma that appears before age 30 and two of these: meningioma, juvenile cataracts, glioma, or schwannoma. With shwannomatosis, shwannomas appear all over the body and pain is a major symptom. Numbness, weakness, and tingling are other symptoms that may occur.
Treatment is difficult because scientist have been unable to come up with a definitive way to keep neurofibromas from growing. Surgery is one of the recommendations, especially if they believe it may become cancerous or if they are likely to cause disfigurement. There are several options for surgery but there is no “best” type of surgery that can be agreed upon. Radiation and chemotherapy may also be considered if it is cancerous.
Other treatments focus on managing the symptoms of neurofibromatosis. Medications can be prescribed to treat seizures or headaches.