Tuberous Sclerosis / Disease

Diseases & Conditions

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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: [email protected]
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: [email protected]
Home page: http://www.epilepsyfoundation.org
Hemispherectomy Foundation
P.O. Box 1239
Aledo TX 76008
Phone #: 817-307-9880
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.ninds.nih.gov/
Rothberg Institute, Inc
530 Whitfield St.
Guilford CT 06437
Phone #: 203-458-7100
800 #: --
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.tsalliance.org
Tuberous Sclerosis Association
PO Box 13938
Birmingham Intl B45 5BF
Phone #: 44--056-02420809
800 #: --
e-mail: [email protected]
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: [email protected]
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