Neurofibromatosis
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Links
Clinical Neurogenetics
This Clinical Neurogenetics Web page from the Department of Neurosurgery provides links to information on neurogenetic diseases including neurofibromatosis and von Hippel-Lindau disease.
The Children's Tumor Foundation:
Ending Neurofibromatosis Through Research. The homepage provides information on current events, genetic information, newsletter and various chapters. The Children's Tumor Foundation. is a non-profit 501(c)(3) medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatosis (NF). The group also works closely with clinical and research professionals.
The site for the North Carolina chapter is:
http;//www.ctf.org
National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke offers a patient guide to disorders that are listed on this Web page alphabetically under the heading of publications. Information on neurofibromatosis and von Hippel-Lindau Disease is available in the alphabetical directory. This Web site also has information for professionals.
National Organization for Rare Diseases Inc.
The National Organization for Rare Diseases Inc. offers information on the definition, prevention, treatment and cure of more than 1,000 rare diseases.
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Definition
Neurofibromatosis is a genetic disorder of the nervous system. It causes tumors to grow on nerves and produces other abnormalities such as skin changes and bone deformities. It occurs in 1 in every 3,000 to 4,000 births.
Symptoms may appear as early as birth, but usually by age 10. Most symptoms are mild and people can lead normal and productive lives. However, some symptoms can be severely debilitating.
About 50 percent of the people affected with NF have a prior family history. Neurofibromatosis has been divided into two types, NF1 and NF2.
Symptoms
The symptoms can vary greatly, depending on the individual, family history and severity of the disease.
With NF1, the most common signs are more than five brown skin spots sometimes referred to as café-au-lait spots. (People without NF can have a few of these spots.) NF1 symptoms also include freckling in the armpits or groin areas, two or more neurofibromas (tumors that grow on a nerve or nerve tissue under the skin), mental impairment, benign growths on the iris called iris nevi, a tumor on the optic nerve, severe scoliosis and enlargement or deformation of certain bones.
The symptoms of NF2 include bilateral tumors on the eighth cranial nerve that can cause progressive hearing loss and can cause damage to nearby nerves that could become life threatening. Other symptoms include vertigo, headaches, facial pain or numbness, ringing ears, swelling under the skin and an unsteady gate. These symptoms generally begin in the teens or early 20s.
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Diagnosis
A physical examination will reveal any skin spots or growths under the skin. Further examination could include testing hearing damage, as well as bone changes, and a simple procedure to determine the presence of iris nevi.
Testing could include X-rays, magnetic resonance imaging (MRI) of the affected site and biopsies of the skin lesions. In addition, a direct gene test can be done for NF2.
Treatment
The treatment for neurofibromatosis is aimed at the symptoms and at controlling or removing any tumors that are causing problems.
Other treatments for helping hearing or eyesight may be necessary.
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Research
The National Institute of Neurological Disorders and Strokes research teams have worked on identifying the NF and VHL genes and their makeup, sequences and patterns.
Other research is also aimed at improving methods of diagnosing the condition and identifying the factors that contribute to the variations of symptoms and severity.
WFUBMC Approach
The Medical Center offers a multidisciplinary approach to diagnosis, treatment and research on these disorders.
The Medical Center is a VHL Family Alliance designated Clinical Care Center. The goals of the alliance and these centers is to improve diagnosis and treatment of VHL, to provide coordination of care across medical specialties, to provide resource centers for patients and physicians who are new to VHL and to provide a ready channel for communicating advances to these centers of expertise..
The Medical Center is involved in neurofibromatosis research on methods to non-invasively treat the brain tumors and to preserve hearing using advanced stereotactic radiosurgery and other techniques.
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