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 (café-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 Rd
Suite 750
Silver Spring, MD 20910-4467
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)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Epilepsy Foundation
4351 Garden City Drive
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: postmaster@efa.org
Internet: http://www.epilepsyfoundation.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Tuberous Sclerosis Association (UK)
PO Box 9644
Bromsgrove, Intl B61 0FP
United Kingdom
Tel: 44 (0)1527 871898
Fax: +44 (0)1527 579452
Email: support@tuberous-sclerosis.org
Internet: http://www.tuberous-sclerosis.org

Tuberous Sclerosis Canada (Sclerose Tubereuse)
140 Green Briar Road
Alliston
Ontario, Intl L9R 1Y1
Canada
Tel: 8003470252
Email: keepsinging@sympatico.ca
Internet: http://www.tscst.org

Rothberg Institute, Inc
530 Whitfield St.
Guilford, CT 06437
USA
Tel: 2034587100
Fax: 2034582514
Email: jfverney@childhooddiseases.org
Internet: http://www.childhooddiseases.org

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

People Living With Cancer
1900 Duke Street
Suite 200
Alexandria, VA 22314
Tel: (703)299-0150
Fax: (703)684-8618
Tel: (888)651-3038
Email: contactus@plwc.org
Internet: http://www.plwc.org