Tuberous Sclerosis

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

PO Box 13938

Birmingham, Intl B45 5BF

United Kingdom

Tel: 44-05602420809

Email: development-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: (203)458-7100

Fax: (203)458-2514

Email: jfverney@childhooddiseases.org

Internet: 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

Tel: (877)336-5333

Email: mums@netnet.net

Internet: 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

Email: mail@sjaeldnediagnoser

Internet: 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

Tel: (888)651-3038

Email: contactus@cancer.net

Internet: http://www.cancer.net/patient



LAM Treatment Alliance, Inc.

87 Garden Street

Cambridge, MA 02138

Tel: (617)460-7339

Fax: (617)864-0614

Email: info@LAMTreatmentAlliance.org

Internet: 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

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