NINDS Neurofibromatosis Information Page

What is Neurofibromatosis?

The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.  The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves.  These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis, a type that was once considered to be a variation of NF2.  NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old,  may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia.  NF2 is less common and is characterized by slow-growing tumors on the eighth cranial nerves. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for eighth nerve tumors, cataracts at an early age or changes in the retina that may affect vision, other nervous system tumors and similar signs and symptoms in a parent, sibling, or child. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve.  The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue.  Some people may develop numbness, tingling, or weakness in the fingers and toes.

Is there any treatment?

What is the prognosis?

What research is being done?

• Neurofibromatosis Fact Sheet
  
  Neurofibromatosis fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
• Neurobiology of Disease In Children: Neurofibromatosis
  NEUROBIOLOGY OF DISEASE IN CHILDREN
• Defining the Future of Neurofibromatosis Research
  Summary of an NINDS workshop, "Defining the Future of Neurofibromatosis Research," May 4-5, 2000.