Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, heart, and lungs. The condition can also cause tumors to grow in the brain. These tumors have a tuber or root-shaped appearance.
Tuberous sclerosis is an inherited condition. Changes (mutations) in one of two genes, TSC1 and TSC2, are responsible for most cases.
Only one parent needs to pass on the mutation for the child to get the disease. However, two-thirds of cases are due to new mutations. In most cases, there is no family history of tuberous sclerosis.
This condition is one of a group of diseases called neurocutaneous syndromes. Both the skin and central nervous system (brain and spinal cord) are involved.
There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.
Skin symptoms include:
Brain symptoms include:
Other symptoms include:
The symptoms vary from person to person. Some people have normal intelligence and no seizures. Others have intellectual disabilities or difficult-to-control seizures.
Signs may include:
Tests may include:
DNA testing for the two genes that can cause this disease (TSC1 or TSC2) is available.
Regular ultrasound checks of the kidneys are important to make sure there is no tumor growth.
There is no known cure for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.
For additional information and resources, contact the Tuberous Sclerosis Alliance at www.tsalliance.org.
Children with mild tuberous sclerosis most often do well. However, children with severe intellectual disability or uncontrollable seizures often need lifelong assistance.
Sometimes when a child is born with severe tuberous sclerosis, one of the parents is found to have had a mild case of tuberous sclerosis that was not diagnosed.
The tumors in this disease tend to be noncancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.
Complications may include:
Call your health care provider if:
Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.
Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children.
Prenatal diagnosis is available for families with a known gene mutation or history of this condition. However, tuberous sclerosis often appears as a new DNA mutation. These cases are not preventable.
National Institute of Neurological Disorders and Stroke website. Tuberous sclerosis fact sheet. NIH publication 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Updated March 2020. Accessed November 3, 2020.
Northrup H, Koenig MK, Pearson DA, et al. Tuberous sclerosis complex. GeneReviews. Seattle (WA): University of Washington, Seattle; July 13, 1999. Updated April 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.
Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.
Tsao H, Luo S. Neurofibromatosis and tuberous sclerosis complex. In: Bolognia JL, Schaffer JV, Cerroni L, et al, eds. Dermatology. 4th ed. Philadelphia, PA: Elsevier; 2018:chap 61.BACK TO TOP
Review Date: 7/21/2020
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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