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Neurofibromatosis

What is Neurofibromatosis?
Neurofibromatosis (NF), also known as von Recklinghausen disease, is a genetic disorder that can affect many organs in the body, especially the skin and the nervous system.  Some of the features may be present at birth, but others do not appear for many years.  There are three forms of Neurofibromatosis:  NF1, NF2 and Schwannomatosis.  

What is Neurofibromatosis-1?
Neurofibromatosis 1 (NF1) is the most common type of Neurofibromatosis, and it is seen in 1/3000-4000 people.  Multiple birthmarks and tumors in the nervous system and brain are typical.  It is often inherited in an autosomal dominant fashion, however, in 50% of cases there is no family history and it is a result of a gene mutation—a new change not seen in other family members.

What is Neurofibromatosis-2?
Neurofibromatosis 2 (NF2) also called Bilateral Acoustic Neurofibromatosis makes up 10% of all cases of NF with an incidence of 1/50,000.  Tumors on the nerves going to the ears, usually on both sides, are characteristic.  People with NF2 may also have other lesions and tumors in the brain and spinal cord.  The majority of cases of NF2 result from a gene mutation—a new change not seen in other family members.

What is Schwannomatosis?
Schwannomatosis is another rare form of NF. It is newly recognized and not as well understood as NF1 and NF2. 

What are the features of Neurofibromatosis-1?
Most people with NF1 will have some but not all of the following signs:

What are some of the possible complications of NF1?

What are the features of Neurofibromatosis-2?

What are some of the possible complications of NF2?

What is the management for Neurofibromatosis-1?
There is no cure for NF1, but there are many things your family can do to decrease complications:

What is the management for Neurofibromatosis-2?
There is no cure for NF2, but you can minimize the complications:

Where can I find more information on NF?

Where can I find organizations, support and other resources relating to NF?

Información en Español

Related Topics on YourChild

Reference:
Haslam RH: Neurocutaneous Syndromes. In Berman RE, Kliegman RM, Jenson HB (editors): Nelson Textbook of Pediatrics, 17th Edition. Philadelphia, Elsevier, 2004, p. 2015-2017.

Written and compiled by Kyla Boyse, R. N. Reviewed by faculty and staff at the University of Michigan
Updated June 2008


U-M Health System Related Sites:
U-M Pediatrics

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