Tuberous Sclerosis

Important
It is possible that the main title of the report Tuberous Sclerosisis not the name you expected.

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
800: 8002256872
info@tsalliance.org
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
800: (888)663-4637
Askus@marchofdimes.com
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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

Epilepsy Foundation
4351 Garden City Drive
Landover
MD
20785
Tel: (301)459-3700
Fax: (301)577-2684
800: (800)332-1000
TDD: (800)332-2070
postmaster@efa.org
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
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

Tuberous Sclerosis Association
PO Box 13938
Birmingham
Intl
B45 5BF
United Kingdom
Tel: 44-05602420809
development-support@tuberous-sclerosis.org
http://www.tuberous-sclerosis.org

Tuberous Sclerosis Canada (Sclerose Tubereuse)
140 Green Briar Road
Alliston
Ontario
Intl
L9R 1Y1
Canada
800: 8003470252
keepsinging@sympatico.ca
http://www.tscst.org

Rothberg Institute, Inc
530 Whitfield St.
Guilford
CT
06437
USA
Tel: (203)458-7100
Fax: (203)458-2514
jfverney@childhooddiseases.org
http://www.childhooddiseases.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

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
mail@sjaeldnediagnoser
http://www.raredisorders.dk

Cancer.Net
American Society of Clinical Oncology
2318 Mill Road
Suite 800
Alexandria
VA
22314
Tel: (571)483-1780
Fax: (571)366-9537
800: (888)651-3038
contactus@cancer.net
http://www.cancer.net/patient

LAM Treatment Alliance, Inc.
87 Garden Street
Cambridge
MA
02138
Tel: (617)460-7339
Fax: (617)864-0614
info@LAMTreatmentAlliance.org
http://www.LAMTreatmentAlliance.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

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: 5/8/2008
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 of Rare Disorders

Last Updated: May 08, 2008

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