(NF1; Von Recklinghausen's Disease; NF2; Schwannomatosis)
- Changes in skin color
- Deformity of bones
|The Nervous System|
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- NF1—caused by mutations (or changes) of the neurofibromin gene (more common)
- NF2—caused by mutations of the merlin gene
- Schwannomatosis—mutation of the SMARCB1/INI1 gene
Symptoms of NF1
- Light brown spots (called café-au-lait spots) on the skin
Neurofibromas (tumors that grow on a nerve or nerve tissue)— rarely occur before puberty
- These tumors can progress to become aggressive malignant tumors.
- Freckles in the armpits or groin
- Growths on the iris of the eye (called Lisch nodules or hamartomas)—raised spots on the colored part of the eye
- Tumor on the optic nerve that may affect vision (optic nerve gliomas)
- Severe scoliosis (curved spine)
- Deformed bone in skull or shin bone
- Mild impairment of intellectual function, attention deficit disorder
Symptoms of NF2
- Several tumors on the nerves of the brain and spine. Most common are tumors that affect the nerves to the ears and balance. Hearing loss may begin as early as the teen years.
Other symptoms may include:
- Tinnitus (ringing in the ear)
- Poor balance
- Pain or numbness in the face
Symptoms of Schwannomatosis
- Pain is primary symptom when tumors are large enough to press on nearby nerves or tissue
- Some may have numbness, tingling, or weakness in fingers and toes
- Exam by a doctor familiar with neurofibromatosis (eg, neurologist, geneticist, dermatologist)
- Eye exam by an ophthalmologist familiar with NF1
- Removal of neurofibromas for testing
- Other specific tests associated with complications
- Magnetic resonance imaging (MRI) scan—for detailed pictures of the brain and body
- Genetic testing—available for families with a history of neurofibromatosis. Prenatal diagnosis may be possible with amniocentesis or chorionic villus sampling.
- Brown spots on the skin
- Bones, including scoliosis
Treatment of NF1
Treatment of NF2
- Partial removal of tumors
Treatment of Schwannomatosis
Children's Tumor Foundation http://www.ctf.org/
Neurofibromatosis, Inc. http://www.nfnetwork.org/
The British Columbia Neurofibromatosis Foundation http://bcnf.bc.ca/
NF Canada http://www.nfcanada.ca/
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%5Fneurofibromatosis.htm . Accessed October 16, 2012.
Your Genes Your Health website. Available at: http://www.yourgenesyourhealth.org/nf/whatisit.htm . Accessed October 16, 2012.
- Reviewer: Rimas Lukas, MD
- Review Date: 08/2012 -
- Update Date: 08/30/2012 -