Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Tuberous Sclerosis


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

Disorder Subdivisions



    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 (caf?-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).

    Organizations related to Tuberous Sclerosis
    • Cancer.Net
      American Society of Clinical Oncology
      Alexandria VA 22314
      Phone #: 571-483-1780
      800 #: 888-651-3038
      e-mail: contactus@cancer.net
      Home page: http://www.cancer.net/patient
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: postmaster@efa.org
      Home page: http://www.epilepsyfoundation.org
    • Hemispherectomy Foundation
      P.O. Box 1239
      Aledo TX 76008
      Phone #: 817-307-9880
      800 #: N/A
      e-mail: info@hemifoundation.org
      Home page: http://www.hemifoundation.org
    • LAM Treatment Alliance, Inc.
      87 Garden Street
      Cambridge MA 02138
      Phone #: 617-460-7339
      800 #: N/A
      e-mail: info@LAMTreatmentAlliance.org
      Home page: http://www.LAMTreatmentAlliance.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • Rothberg Institute, Inc
      530 Whitfield St.
      Guilford CT 06437
      Phone #: 203-458-7100
      800 #: --
      e-mail: jfverney@childhooddiseases.org
      Home page: http://www.childhooddiseases.org
    • Sj?ldne Diagnoser / Rare Disorders Denmark
      Frederiksholms Kanal 2, 3rd Floor
      Copenhagen K None 1220
      Phone #: 45 -33 -14 00 10
      800 #: N/A
      e-mail: mail@sjaeldnediagnoser
      Home page: http://www.raredisorders.dk
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/
    • Tuberous Sclerosis Alliance
      801 Roeder Rd
      Silver Spring MD 20910-4467
      Phone #: 301-562-9890
      800 #: 800-225-6872
      e-mail: info@tsalliance.org
      Home page: http://www.tsalliance.org
    • Tuberous Sclerosis Association
      PO Box 13938
      Birmingham Intl B45 5BF
      Phone #: 44--056-02420809
      800 #: --
      e-mail: development-support@tuberous-sclerosis.org
      Home page: http://www.tuberous-sclerosis.org
    • Tuberous Sclerosis Canada (Sclerose Tubereuse)
      140 Green Briar Road
      Ontario Intl L9R 1Y1
      Phone #: --
      800 #: 800-347-0252
      e-mail: keepsinging@sympatico.ca
      Home page: http://www.tscst.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html