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Tuberous sclerosis

Reviewed November 2005

What is tuberous sclerosis?

Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant medical problems.

The signs and symptoms of tuberous sclerosis vary according to the location of tumor growth. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face (facial angiofibromas) are also common, beginning in childhood. Many people with tuberous sclerosis have noncancerous brain tumors. Neurologic symptoms can include seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Kidney tumors are also common in people with tuberous sclerosis; these growths can cause serious problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).

How common is tuberous sclerosis?

Tuberous sclerosis affects about 1 in 6,000 people.

What genes are related to tuberous sclerosis?

Mutations in the TSC1 and TSC2 genes cause tuberous sclerosis. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely function together as a protein complex that helps regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. Mutations in either the TSC1 or TSC2 gene lead to the production of a nonfunctional version of hamartin or tuberin. As a result, cells can divide excessively to form the numerous tumors associated with tuberous sclerosis.

How do people inherit tuberous sclerosis?

Tuberous sclerosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About two thirds of cases result from new mutations in the TSC1 or TSC2 gene. These cases occur in people with no history of tuberous sclerosis in their family. In the remaining cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis, while mutations in the TSC2 gene tend to occur more frequently in affected individuals with no family history of the disorder.

Where can I find information about treatment for tuberous sclerosis?

You may find information on treatment or management of tuberous sclerosis or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about tuberous sclerosis?

You may find the following resources about tuberous sclerosis helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Tuberous Sclerosis (http://www.nlm.nih.gov/medlineplus/ency/article/000787.htm)
    • Health Topic: Tuberous Sclerosis (http://www.nlm.nih.gov/medlineplus/tuberoussclerosis.html)
  • Additional NIH Resources - National Institutes of Health
    • National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.221)
    • National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm)
  • Educational resources - Information pages
    • California Department of Developmental Services (http://www.ddhealthinfo.org/coursebuilder/?id=41)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,224/)
    • New York Online Access to Health (http://www.noah-health.org/en/bns/disorders/tuberous/)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=805)
    • Swedish Information Center for Rare Diseases (http://www.socialstyrelsen.se/en/rarediseases/Tuberous+sclerosis.htm)
  • Patient support - For patients and families
    • Epilepsy Foundation (http://www.epilepsyfoundation.org/)
    • National Organization for Rare Disorders (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tuberous+Sclerosis)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/tuberous.html)
    • The Tuberous Sclerosis Association (UK) (http://www.tuberous-sclerosis.org/)
    • Tuberous Sclerosis Alliance (http://www.tsalliance.org)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tuberous-sclerosis)
  • Gene Tests - DNA tests ordered by healthcare professionals
    • DNA Test for TSC1 (http://www.genetests.org/query?testid=54046)
    • DNA Test for TSC2 (http://www.genetests.org/query?testid=54049)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22tuberous+sclerosis%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Tuberous+Sclerosis[MAJR])+AND+(tuberous+sclerosis[TI])+AND+review[pt]+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191100)

What other names do people use for tuberous sclerosis?

  • Bourneville Disease
  • Bourneville Phakomatosis
  • cerebral sclerosis
  • Epiloia
  • sclerosis tuberosa
  • tuberose sclerosis
  • Tuberous sclerosis complex

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about tuberous sclerosis?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding tuberous sclerosis?

autism ; autosomal ; autosomal dominant ; cell ; familial ; family history ; gene ; hyperactivity ; kidney ; mutation ; neurologic ; new mutation ; protein ; retina ; sclerosis ; seizure ; sign ; symptom ; tissue ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Gene Review (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tuberous-sclerosis)
  • Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10815131)
  • Lewis JC, Thomas HV, Murphy KC, Sampson JR. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet. 2004 Mar;41(3):203-7. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14985384)
  • Maria BL, Deidrick KM, Roach ES, Gutmann DH. Tuberous sclerosis complex: pathogenesis, diagnosis, strategies, therapies, and future research directions. J Child Neurol. 2004 Sep;19(9):632-42. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15563008)
  • Narayanan V. Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol. 2003 Nov;29(5):404-9. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14684235)
  • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998 Dec;13(12):624-8. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=9881533)
  • Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):643-9. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15563009)
  • Rose VM. Neurocutaneous syndromes. Mo Med. 2004 Mar-Apr;101(2):112-6. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15119108)
  • Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):680-6. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15563014)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2005
Published: January 23, 2009