What is neurofibromatosis type 2 (NF2)?

Neurofibromatosis type 2 (NF2) affects about 1 in 25,000 people. Approximately 50 percent of affected people inherit the disorder; in others, the disorder is caused by a spontaneous genetic mutation of unknown cause. The hallmark finding in NF2 is the presence of slow-growing tumors on the eighth cranial nerve. This nerve has two branches: the acoustic branch helps people hear by transmitting sound sensations to the brain, and the vestibular branch helps people maintain their balance. The characteristic tumors of NF2 are called vestibular schwannomas because of their location and the types of cells involved. As these tumors grow, they may press against and damage nearby structures, such as other cranial nerves and the brain stem (the latter can cause serious disability). Schwannomas in NF2 may occur along any nerve in the body, including spinal nerves, other cranial nerves, and peripheral nerves. These tumors may be seen as bumps under the skin (when the nerves involved are just under the skin surface) or can also be seen on the skin surface as small (less than 1 inch), dark, rough areas of hairy skin. In children, tumors may be smoother, less pigmented, and less hairy.

Although individuals with NF2 may have schwannomas that resemble small, flesh-colored skin flaps, they rarely have the cafe-au-lait spots that are seen in NF1.

Individuals with NF2 are at risk for developing other types of nervous system tumors, such as ependymomas and gliomas (two tumor types that grow in the spinal cord) and meningiomas (tumors that grow along the protective layers surrounding the brain and the spinal cord). Affected individuals may develop cataracts at an earlier age or changes in the retina that may affect vision. Individuals with NF2 may also develop problems with nerve function, independent of tumors, usually symmetric numbness and weakness in the extremities, due to the development of a peripheral neuropathy.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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