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    Tuberous Sclerosis

    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.

    Synonyms

    • Bourneville Pringle Syndrome
    • Epiloia
    • Phakomatosis TS
    • TSC1
    • TSC2
    • Tuberose Sclerosis
    • Tuberous Sclerosis Complex
    • Tuberous Sclerosis-1

    Disorder Subdivisions

    • None

    General Discussion

    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).

    Resources

    Tuberous Sclerosis Alliance
    801 Roeder Road
    Suite 750
    Silver Spring, MD 20910
    US
    Tel: 3015629890
    Fax: 3015629870
    Tel: 8002256872
    Email: info@tsalliance.org
    Internet: http://www.tsalliance.org

    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

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    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: development-support@tuberous-sclerosis.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: info@cbtf.org
    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: info@braintumorkids.org
    Internet: http://www.braintumorkids.org

    Tuberous Sclerosis Canada Sclerose Tubereuse
    508 12th Street
    Dunmore
    Alberta, T1B 0K4
    Canada
    Tel: 8882232410
    Email: raymarco@shaw.ca
    Internet: http://www.tscanada.ca

    Rare Cancer Alliance
    1649 North Pacana Way
    Green Valley, AZ 85614
    USA
    Internet: http://www.rare-cancer.org

    Rothberg Institute For Childhood Diseases
    530 Whitfield Street
    Guilford, CT 06437
    USA
    Tel: (203)458-7100
    Fax: (203)458-2514
    Email: info@childhooddiseases.org
    Internet: http://www.childhooddiseases.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Pediatric Brain Tumor Foundation
    302 Ridgefield Court
    Asheville, NC 28806
    Tel: (828)665-6891
    Fax: (828)665-6894
    Tel: (800)253-6530
    Email: pbtfus@pbtfus.org
    Internet: http://www.pbtfus.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: contactus@cancer.net
    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: info@lamtreatmentalliance.org
    Internet: http://www.LAMTreatmentAlliance.org

    Hemispherectomy Foundation
    P.O. Box 1239
    Aledo, TX 76008
    Tel: (817)307-9880
    Email: info@hemifoundation.org
    Internet: http://www.hemifoundation.intuitwebsites.com/welcome.html

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    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

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 2/24/2010
    Copyright 1984, 1985, 1987, 1988, 1989, 1990, 1992, 1993, 1994, 1997, 1998, 1999, 2000, 2004, 2005 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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