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Neurofibromatosis-1   

Overview | Symptoms | Treatment | Prevention

Alternative names:

NF1; vonRecklinghausen neurofibromatosis

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.

Causes and Risks

NF1 is an autosomal dominant trait, meaning that if either parent has NF1, their children have a 50% chance of having the disease. NF1 may also appear in a family with no previous history as a new mutation. NF1 is due to mutations or abnormalities in one of the genes encoding a protein called neurofibromin.

Neurofibromatosis causes unchecked growth of neurofibromatous tissue in nerves such as the optic nerve, and it can cause severe nerve damage (leading to loss of function to the area stimulated by that nerve).

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