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| Definition: | Neurofibromatosis-1 is an inherited disorder characterized by formation of neurofibromas (tumors involving nerve tissue) in the skin, subcutaneous tissue, cranial nerves, and spinal root nerves.
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| Alternative Names: | NF1; vonRecklinghausen neurofibromatosis
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| Causes, incidence, and risk factors: | NF1 is an autosomal dominant trait, meaning that if either parent has NF1, their children have a 50% chance of inheriting the disease. NF1 also appears in families with no previous history of the condition, as a result of a new genetic mutation in the particular sperm or egg that created the child. NF1 is caused by abnormalities in one of the genes encoding a protein called neurofibromin.
Neurofibromatosis causes unchecked growth of neurofibromatous tissue in nerves, which can put pressure on affected nerves and cause pain and severe nerve damage. This leads to loss of function in the area served by the nerve. Problems with sensation or movement can occur as a result, depending on the particular nerves affected.
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Review Date: 11/7/2002
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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