Neurofibromatosis Type 1

Overview

Mayo Clinic is an international authority in diagnosing and treating neurofibromatosis type 1 (NF1) and each year cares for more than 800 patients who have this disorder.

A special NF1 clinic in Minnesota coordinates care by a variety of specialists to stay ahead of complications that can develop with the disorder. Experts in neurology, neurosurgery, medical genetics, ophthalmology, developmental pediatrics, orthopedics, plastic surgery, radiology and other specialists are available every day to see patients in the clinic.

Mayo Clinic has experienced radiologists who can find tumors that are often hard to detect. The high quality images they are able to obtain, combined with their knowledgeable interpretation and the skills of Mayo Clinic neurosurgeons, create a special capability to remove neurofibromas without damaging nerves.

Mayo specialists are also at the forefront in research and testing of promising new therapies.

Though NF1 is chronic and progressive, most people with the disorder have a normal life expectancy and symptoms can be managed with proper attention.

Diagnosis

Because symptoms and severity vary considerably, NF1 can sometimes be difficult to recognize. Mayo Clinic doctors are very familiar with the disorder, having diagnosed and treated large numbers of patients with a range of symptoms. They can recognize complications associated with this condition early, and begin timely treatment. They also have access to state-of-the-art technology, such as higher-resolution MRI scanners, to assist in in-depth evaluations. Read more about neurofibromatosis type 1 diagnosis.

Treatment Options

Because people with NF1 vary greatly in the symptoms they develop and at what rate, treatment must be highly individualized. At Mayo Clinic, an experienced team offers coordinated treatment of all symptoms that patients may experience. Read more about neurofibromatosis type 1 treatment options.

• Treatment in Arizona
• Treatment in Florida
• Treatment in Minnesota
• Treatment of Children & Adolescents

About the Disease

Neurofibromatosis type 1 (NF1) is one of the most common hereditary tumor-predisposing disorders. It is long-lasting (chronic) and characterized by skin pigment changes and neurofibromas. Neurofibromas are tumors composed of nervous system tissue (neuro) and fibrous tissue (fibroma). They arise from nerves and may appear in or just under the skin, near the cranium (skull), the spinal root, or other parts of the body. These tumors are usually benign, but can sometimes put pressure on surrounding structures, causing pain or loss of function. Read about symptoms.

NF1 is an autosomal dominant disorder, meaning that it can be inherited from either parent. It can also develop due to a spontaneous mutation. Up to half of all people with NF1 do not have a parent with the disease — but they can pass it on to their own children.

NF1 is caused by mutation in a gene (on chromosome 17) that makes a protein called neurofibromin. One of neurofibromin's roles is thought to be tumor suppression, which would explain why its absence would result in the growth of neurofibromas.