Neurofibromatosis may either be inherited in an autosomal dominant pattern or it may be due to a new gene mutation in an individual. The gene for schwannomatosis has not yet been identified.
Symptoms of schwannomatosis
Schwannomatosis is considered to be a rare form of neurofibromatosis. Only about 15% of cases seem to be inherited. Researchers have not yet identified the genetics involved in schwannomatosis.The symptoms of schwannomatosis include the development of schwannomas (tumors in the tissue around a nerve) anywhere in the body except on the eighth cranial nerve. These tumors cause excruciatingly intense pain, and may also cause numbness, tingling, or weakness in the fingers and toes. Individuals with schwannomatosis do not develop neurofibromas as in neurofibromatosis types 1 and 2.
Diagnosis of schwannomatosis
Magnetic resonance imaging (MRI), computed tomography (CT) scan, and X-rays are used to look for tumors in the body, especially in areas where the individual has pain.Treatment of neurofibromatosis
Doctors do not know how to stop the tumors from growing in neurofibromatosis. Surgery can be used to remove tumors that are causing pain or problems with vision or hearing. Chemical or radiation treatments may be used to reduce the size of tumors. Other symptoms such as pain, headaches, or seizures can be managed with medications or other treatments.Sources:
"Neurofibromatosis Fact Sheet." Disorders. 13 Dec 2007. National Institute of Neurological Disorders and Stroke. 28 May 2008. "Learning About Neurofibromatosis." Specific Genetic Disorders. 27 Nov 2007. National Human Genome Research Institute. 28 May 2008.
