Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. There are three types of neurofibromatosis:
- Neurofibromatosis type 1 (NF1) causes skin changes and deformed bones and usually starts at birth.
- Neurofibromatosis type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years.
- Schwannomatosis causes intense pain. It is the rarest type.
Neurofibromatosis can either be an inherited disorder or the product of a gene mutation. Both NF1 and NF2 are caused by two separate abnormal genes and may be inherited from parents who have NF or may be the result of a mutation in the sperm or egg cells. NF is considered an autosomal dominant disorder.The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines.
- Learning About Neurofibromatosis. National Human Genome Research Institute (NHGRI). http://www.genome.gov/14514225. Accessed February 10, 2010.
- Neurofibromatosis. MedlinePlus. http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html. Accessed February 10, 2010.
- Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm. Accessed February 10, 2010.
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- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. Click on the link to view the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofibromatosis. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Neurofibromatosis. Click on the link to go to OMIM and review these resources.