Important It is possible that the main title of the report Tuberous Sclerosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Bourneville Pringle Syndrome
Tuberous Sclerosis Complex
Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by episodes of uncontrolled electrical activity in the brain (seizures); mental retardation; distinctive skin abnormalities (lesions); and benign (noncancerous), tumor-like nodules (hamartomas) of the brain, certain regions of the eyes (e.g., retinas), the heart, the kidneys, the lungs, or other tissues or organs. In addition, many affected individuals may have cyst-like areas within certain skeletal regions, particularly bones of the fingers and toes (phalanges). Characteristic skin lesions include sharply defined areas of decreased skin coloration (hypopigmentation) that may develop during infancy and relatively small reddish nodules that may appear on the cheeks and nose beginning at approximately age four. These reddish lesions eventually enlarge, blend together (coalesce), and develop a wart-like appearance (sebaceous adenomas). Additional skin lesions may also develop, including flat, "coffee-colored" areas of increased skin pigmentation (cafe-au-lait spots); benign, fibrous nodules (fibromas) arising around or beneath the nails; or rough, elevated, "knobby" lesions (shagreen patches) on the lower back.
Tuberous sclerosis results from changes (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic) gene mutations, with no family history of the disease. Mutations of at least two different genes are known to cause tuberous sclerosis. One gene (TSC1) has been mapped to the long arm (q) of chromosome 9 (9q34). A second gene for the disease (TSC2) is located on the short arm (p) of chromosome 16 (16p13.3). It remains unclear whether some sporadic and familial cases of the disease may be caused by mutations of other, currently unidentified genes (genetic heterogeneity).
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
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Epilepsy Foundation 8301 Professional Place Landover, MD 20785-7223 Tel: (866)330-2718 Fax: (877)687-4878 Tel: (800)332-1000 TDD: (800)332-2070 Email: ContactUs@efa.org Internet: http://www.epilepsyfoundation.org
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Internet: http://www.ninds.nih.gov/
Tuberous Sclerosis Association Toad Hall White Rose Lane Woking Surrey, GU22 7LB United Kingdom Tel: 4401214456970 Email: firstname.lastname@example.org Internet: http://www.tuberous-sclerosis.org
Children's Brain Tumor Foundation 274 Madison Avenue, Suite 1004 New York, NY 10016 United States Tel: (212)448-1595 Fax: (212)448-1022 Tel: (866)228-4673 Email: email@example.com Internet: http://www.cbtf.org
Brain Tumor Foundation for Children, Inc. 6065 Roswell Road Suite 505 Atlanta, GA 30328-4015 USA Tel: (404)252-4107 Fax: (404)252-4108 Email: firstname.lastname@example.org Internet: http://www.braintumorkids.org
Cancer.Net American Society of Clinical Oncology 2318 Mill Road Suite 800 Alexandria, VA 22314 Tel: (571)483-1780 Fax: (571)366-9537 Tel: (888)651-3038 Email: email@example.com Internet: http://www.cancer.net/
LAM Treatment Alliance, Inc. 50 Church Street 5th Floor Cambridge, MA 02138 Tel: (617)460-7339 Fax: (617)864-0614 Email: firstname.lastname@example.org Internet: http://www.LAMTreatmentAlliance.org
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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