About Neurofibromatosis

Neurofibromatosis is a rare genetic condition which causes tumors of the nervous system and abnormalities of the skin. These tumors are mostly benign but there may be occasional malignancies.

There are three currently identified types of neurofibromatosis. In type I, tumors form on nerves on or under the skin, but in type II they may also form on nerves that affect balance and hearing, or in the brain or spinal cord. In the newly identified form, called schwannomatosis, tumors called schwannomas may develop on multiple nerves, always excepting the vestibular nerve that affects the patient's balance.

Symptoms

Neurofibromatosis is nearly always severely disfiguring. Other symptoms are a high number of patients with cognitive deficit or learning disabilities due to nerve damage - however actual mental retardation is rare. The epilepsy rate is high in children with neurofibromatosis. There is also a high risk of leukemia and damage to or disease in other organs depending on where tumors may be located. Because of this, symptoms may vary widely. Dizziness and hearing deficit are common symptoms of type II neurofibromatosis.

Diagnosis

Medical history and family history will be taken, and a through physical examination to check for symptoms will be performed in order to diagnose neurofibromatosis.

Imaging procedures, normally including computerized tomography, X-ray and magnetic resonance imaging, will be done to check tumor locations or any other abnormalities in the patient.

Other tests to confirm the neurofibromatosis diagnosis may include genetic testing, and testing for vision, hearing and balance.

Treatment

There is no cure for neurofibromatosis at this time. Many specialists are usually involved in treatment, including geneticists, neurologists, otorhinolaryngologists who specialize in head and neck conditions, dermatologists, audiologists in cases involving hearing impairment, and radiologists.

Surgery is sometimes performed depending on tumor locations or in some hearing and vision disturbances. Many times a patient is at too high a risk from complications for surgery to be performed. For this reason, Gamma knife surgery and less invasive reduction surgery are sometimes the preferred method. Tumors are usually treated with directly focused radiations at their locations, in order to avoid further nerve damage that may occur with surgery. In a minority of neurofibromatosis cases, tumors may be cancerous and chemotherapy may be effective.

It is important for the person with neurofibromatosis to maintain a good emotional support system along with expert medical treatment. Because of the disfiguring element of their illness, these patients are often subjected to traumatic situations, particularly in childhood. There are many support groups available for patients and families. Some links are provided with this article.

Research is ongoing in the field of neurofibromatosis and the Neurofibromatosis Association is hoping for a cure within the next decade.

Sources:

National Institute of Health

Mayo Clinic

Signet/Mosby Medical Encyclopedia