Tuberous Sclerosis
Tuberous Sclerosis
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.
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).
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
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
