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Neurofibromatosis-1

• Overview
• Symptoms
• Treatment
• Prevention

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.

Alternative Names:

NF1; Von Recklinghausen neurofibromatosis

Causes, incidence, and risk factors:

NF1 is an autosomal dominant disease, meaning that if either parent has NF1, their children have a 50% chance of having the disease. NF1 also appears in families with no previous history of the condition, as a result of a new genetic mutation in the sperm or the egg. NF1 is caused by abnormalities in one of the genes encoding a protein called neurofibromin.

Neurofibromatosis causes unchecked growth of tissue along the 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.

• Review Date: 8/11/2006
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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