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Tuberous sclerosis

Bourneville disease 

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.

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Tuberous sclerosis, angiofibromas  - face
Tuberous sclerosis - hypopigmented macule

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Causes

Tuberous sclerosis is genetic 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.

Symptoms

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.

Exams and Tests

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.

Treatment

There is no known cure for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.

Support Groups

For additional information and resources, contact the Tuberous Sclerosis Alliance at www.tsalliance.org.

Outlook (Prognosis)

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.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Contact your health care provider if:

Contact a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.

Prevention

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.

Related Information

Autosomal dominant
Central nervous system
Seizures
Muscle cramps
Intellectual disability
Rashes
Brain tumor - children

References

National Institute of Neurological Disorders and Stroke website. Tuberous sclerosis fact sheet. NIH publication 07-1846. www.ninds.nih.gov/tuberous-sclerosis-fact-sheet. Updated March 2020. Accessed November 11, 2022.

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/.

Safier RA, Cleves-Bavon C, Gaesser J. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.

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.

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Review Date: 7/26/2022  

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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