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Tuberous Sclerosis

National Organization for Rare Disorders, Inc.

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 (cafe-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 Road

Suite 750

Silver Spring, MD 20910

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)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



Epilepsy Foundation

8301 Professional Place

Landover, MD 20785-7223

Tel: (866)330-2718

Fax: (877)687-4878

Tel: (800)332-1000

TDD: (800)332-2070

Email: ContactUs@efa.org

Internet: http://www.epilepsyfoundation.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Tuberous Sclerosis Association

Toad Hall

White Rose Lane

Woking

Surrey, GU22 7LB

United Kingdom

Tel: 4401214456970

Email: development-support@tuberous-sclerosis.org

Internet: http://www.tuberous-sclerosis.org



Children's Brain Tumor Foundation

274 Madison Avenue, Suite 1004

New York, NY 10016

United States

Tel: (212)448-1595

Fax: (212)448-1022

Tel: (866)228-4673

Email: info@cbtf.org

Internet: http://www.cbtf.org



Brain Tumor Foundation for Children, Inc.

6065 Roswell Road Suite 505

Atlanta, GA 30328-4015

USA

Tel: (404)252-4107

Fax: (404)252-4108

Email: info@braintumorkids.org

Internet: http://www.braintumorkids.org



Tuberous Sclerosis Canada Sclerose Tubereuse

508 12th Street

Dunmore

Alberta, T1B 0K4

Canada

Tel: 8882232410

Email: raymarco@shaw.ca

Internet: http://www.tscanada.ca



Rare Cancer Alliance

1649 North Pacana Way

Green Valley, AZ 85614

USA

Internet: http://www.rare-cancer.org



Rothberg Institute For Childhood Diseases

530 Whitfield Street

Guilford, CT 06437

USA

Tel: (203)458-7100

Fax: (203)458-2514

Email: info@childhooddiseases.org

Internet: http://www.childhooddiseases.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Pediatric Brain Tumor Foundation

302 Ridgefield Court

Asheville, NC 28806

Tel: (828)665-6891

Fax: (828)665-6894

Tel: (800)253-6530

Email: pbtfus@pbtfus.org

Internet: http://www.pbtfus.org



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/



LAM Treatment Alliance, Inc.

50 Church Street

5th Floor

Cambridge, MA 02138

Tel: (617)460-7339

Fax: (617)864-0614

Email: info@lamtreatmentalliance.org

Internet: http://www.LAMTreatmentAlliance.org



Hemispherectomy Foundation

P.O. Box 1239

Aledo, TX 76008

Tel: (817)307-9880

Email: info@hemifoundation.org

Internet: http://www.hemifoundation.intuitwebsites.com/welcome.html



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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:  2/24/2010

Copyright  1984, 1985, 1987, 1988, 1989, 1990, 1992, 1993, 1994, 1997, 1998, 1999, 2000, 2004, 2005 National Organization for Rare Disorders, Inc.

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