Advertisement

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.

Continue Learning about Genetic Disorders

What causes urea cycle disorders (UCDs)?
Jumo HealthJumo Health
Urea cycle disorders (UCDs) are caused by a problem with some of the genes in the body. Genes are in...
More Answers
Who is likely to get rosacea?
Dr. Mehmet Oz, MDDr. Mehmet Oz, MD
Rosacea affects men and women, and people of all races, although it is most common in people wit...
More Answers
Why should I know about genetic disorders in my family's history?
Dr. Jeanne Morrison, PhDDr. Jeanne Morrison, PhD
Most families share common lifestyle, genes, and environment. These factors can provide information ...
More Answers
What is the purpose of the Foundation for Mitochondrial Medicine?
Foundation for Mitochondrial Medicine (FMM)Foundation for Mitochondrial Medicine (FMM)
The Foundation for Mitochondrial Medicine’s mission is to support the development of the most promis...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.