Neurofibromatosis is a rare inherited disorder that results in benign tumors of the nerves and other parts of the body. Symptoms of this disease range from being virtually unnoticeable to causing neurologic problems or bone defects that affect the skull and spine.


There are two types of neurofibromatosis. Type 1 (NF-1), also called von Recklinghausen's disease, causes multiple benign (noncancerous) tumors of the nerves and skin. Type 2 (NF-2) causes benign tumors of the nerves that transmit sound from the inner ears to the brain. In some cases, NF-2 causes visions problems and increases the risk of developing specific brain and spinal cord tumors. NF-1 can also cause a change in the color of the skin. Areas of unusual skin color may appear on the trunk of the body as well as cause freckling under the arms or in the groin area. Abnormal skin color may be seen in the patient by one year of age, and the area affected gets bigger over time.

At birth or early childhood, patients may have rather large benign tumors that consist of bundles of nerves. They may also develop harmless tumor-like nodules of the colored parts of the eyes or tumors of the optic nerves, which send nerve impulses from the innermost membrane of the eyes (retinas) to the brain. More rarely, patients may develop certain malignant (cancerous) tumors.

NF-1 may also cause the head to become unusually large and the body to be short. Other symptoms, which can vary greatly from case to case, may include seizures, curvature of the spine, learning problems, speech difficulties, hyperactivity, bowed legs and poor bone development.

Symptoms of NF-2 may show up during childhood, adolescence or early adulthood. Depending on the location and size of the tumors, other symptoms may include problems with balance and walking; dizziness; headache; facial weakness, numbness or pain; ringing in the ears; and/or progressive hearing loss. In some cases, NF-2 causes vision problems and heightens the risk of developing specific brain and spinal cord tumors.

Causes and Risk Factors

NF-1 is caused by changes in a gene that controls production of a protein. This gene is believed to work as a tumor suppressor. In about 50% of individuals with NF-1, the disorder results from gene mutations that happen for unknown reasons. In others with the disorder, NF-1 is an inherited trait.

NF-2 results from changes in a different tumor-suppressing gene. As with NF-1, some people with NF-2 experience a gene mutation that occurs for reasons unknown, while others inherit the trait.


About one-third of the people with neurofibromatosis notice no symptoms, and the disease is first diagnosed during a routine examination when a doctor finds lumps under the skin near nerves. In another third, the disease is first diagnosed when a person seeks help for a cosmetic problem. In the remaining one-third of the people with neurofibromatosis, the disease is diagnosed when they notice neurologic problems.

Many people have medium brown skin spots (café au lait spots) over the chest, back, pelvis, elbows and knees. These spots may exist at birth or appear during infancy. Between ages 10 and 15, flesh-colored growths of varying size and shape begin appearing on the skin. There may be fewer than 10 of these growths or thousands of them. In some people, the growths produce bone problems, such as curvature of the spine, deformed ribs, enlarged long bones of the arms and legs and bone defects of the skull and around the eye.


There is no known treatment or cure for neurofibromatosis. However, growths can usually be removed surgically or reduced with radiation therapy. When growths are close to a nerve, surgery often requires removing the nerve as well.

Because neurofibromatosis is an inherited disorder, genetic counseling is recommended when a person with this disorder is considering parenthood. The Neurogenetics and Ataxia Center and the Neurofibromatosis and Inherited Acoustic Neuroma Clinic at Cedars-Sinai provide diagnosis and counseling for individuals with NF1 and NF2.

© 2000-2022 The StayWell Company, LLC. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.
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