Neurofibromatosis (NF1 and NF2)

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Most people with café-au-lait spots on their skin do NOT have neurofibromatosis, but the characteristic marks are one diagnostic clue to the disorder. Evidence of neurofibromatosis ranges from a few mild spots to more numerous lumpy tumors on the skin and nerves.

Neurofibromatosis is a congenital condition (meaning that it’s present at birth) that can cause skin and brain tumors as well as other complications. Neurofibromatosis is not always obvious at birth, but reveals itself as the child grows. There is no cure for neurofibromatosis, but the condition can be managed over a lifetime to reduce its symptoms and minimize the cosmetic effects.

There are two types of neurofibromatosis: Type 1 (commonly called NF1) and Type 2 (NF2):

Neurofibromatosis Type 1, also called Von Recklinghausen's disease, is much more common than Type 2. NF1 is characterized by “cafe-au-lait spots” (light brown skin patches) as well as neurofibromas (benign skin tumors). These neurofibromas can grow on nerves and organs and need to be surgically removed. NF1 can be very mild and express itself only in skin patches or benign tumors, but more serious cases can cause learning disabilities, headache, hearing loss, seizures, scoliosis, brain tumors, disfigurement, and other complications.

Neurofibromatosis Type 2 is an extremely rare form of the disease that is also known as bilateral acoustic neurofibromatosis. NF2 is characterized by tumors on the eighth cranial nerve, which can lead to hearing loss, headaches, loss of facial control, and problems with balance and walking.

Causes of Neurofibromatosis
Neurofibromatosis is caused by a genetic mutation, which can be either spontaneous or inherited. An individual who develops the mutation spontaneously can then pass it on to his or her children. Someone with neurofibromatosis has a 50 percent chance of having a child with the disease, so genetic counseling is recommended for individuals with NF who are considering parenthood.

Neurofibromatosis is a complicated disorder, and it should be treated at a major medical center by specialists with expertise in the condition. The Neurofibromatosis Program at the Weill Cornell Pediatric Brain and Spine Center offers the services of specialists from a wide range of disciplines to be sure each patient gets the individualized treatment plan that will create the best outcomes.

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Reviewed by: Jeffrey Greenfield, Ph.D., M.D.
Last reviewed/last updated: January 2015
Illustration by Thom Graves, CMI