Neurofibromatosis (NF) is a genetic disorder of the nervous system. It causes tumors to grow on the nerves in any part of the body. NF can also produce other problems, such as:
The Nervous System
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There are three types:
NF is caused by a change in a gene. In many cases the abnormal gene is inherited. However, the gene change can occur by chance in a person with no family history of NF. A person with the inherited form of NF has a 50% chance of passing on the abnormal gene each time he or she has a child. Any parents, children, and siblings of an affected individual should be considered at risk for NF.
There are different symptoms for each type of neurofibromatosis. Symptoms can range from mild to severe. In most, the symptoms are mild and may not be noticed.
Most of these symptoms begin between birth and age 10:
The doctor will ask about your medical and family medical hisotry. Your doctor will also ask about your symptoms. A physical exam will be done.
The diagnosis is generally made based on your symptoms and the physical exam.
Additional tests may include:
If you have NF, you will need regular exams to check for:
There are no current treatments to stop these tumors from growing. Treatment may not be needed since these tumors are rarely cancerous, grow slowly and may not cause problems.
For some, treatment may be needed to control symptoms.
Surgery can also be used to remove painful or disfiguring tumors. However, tumors may grow back and in larger numbers. In rare cases when tumors become cancerous, treatment may include:
Surgery can also help to correct some bone problems. Scoliosis may be treated with bone surgery and back braces.
NF2 tumors are evaluated often. MRI scans of the brain can locate tumors when they are small. This allows treatment to be started early before they damage nearby nerves.
Surgery may be done if the tumor becomes too large or effects nearby tissue. It may also be done to try to prevent hearing loss. The tumor can wrap around nerves. Surgery can cause damage to these nerves. If the nerves to the ears are damaged, hearing loss can occur. Other treatment options include:
Surgery to remove the tumor may help relieve pain.
For some surgery may not be possible. In this case, treatment at a pain clinic may help to manage pain.
RESOURCES:
Children's Tumor Foundation
http://www.ctf.org/
Neurofibromatosis, Inc.
http://www.nfnetwork.org/
CANADIAN RESOURCES:
The British Columbia Neurofibromatosis Foundation
http://bcnf.bc.ca/
NF Canada
http://www.nfcanada.ca/
References:
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Neurofibromatosis. Children's Tumor Foundation website. Available at: http://www.ctf.org/Learn-About-NF/Learn-About-NF.html . Accessed October 16, 2012.
Neurofibromatosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated August 27, 2010. Accessed October 16, 2012.
NINDS neurofibromatosis information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm . Accessed October 16, 2012.
Your Genes Your Health website. Available at: http://www.yourgenesyourhealth.org/nf/whatisit.htm . Accessed October 16, 2012.
Last reviewed August 2012 by Rimas Lukas, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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