Tuberous sclerosis

Overview

What is tuberous sclerosis?

Tuberous sclerosis is a rare genetic disorder. It is also called tuberous sclerosis complex or TSC. It is a highly variable disorder. This means the way it affects one person can be very, very different from how it affects another person. This is true even for people in the same family and even between identical twins. Some people will have neurological problems, while others may only have problems with their skin or their kidneys. The signs and symptoms will vary, depending, in part, on what organs are involved and to what extent. The main feature is the formation of benign (not cancerous) tumors throughout the body, most often in the brain, eyes, heart, kidneys, skin and lungs. Although these tumors are benign, they can cause problems because they grow and can damage nearby organs or structures in the body. The spectrum of disease in tuberous sclerosis is quite large. Some people will have mild symptoms and go undiagnosed well into adulthood. Other people may have severe symptoms in childhood. Many people with tuberous sclerosis have gone on to become lawyers, doctors and other professions. Tuberous sclerosis is a highly individualized disorder and patients and parents of affected children need to work closely with their doctors and medical teams to understand how the disorder will affected them.

Tuberous sclerosis is caused by a change (mutation) in one of two genes, the TSC1 or the TSC2 gene. These changes can be inherited or can occur spontaneously (without a family history of the disorder). A genetic counselor or medical geneticist can help families understand this disorder. The Tuberous Sclerosis Alliance in the United States, the Tuberous Sclerosis Association in the United Kingdom and the Tuberous Sclerosis Canada Sclerose Tubereuse provide information and support.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/tuberous-sclerosis/overview/42725 • DATE UPDATED: 2017-06-20

References

Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/

What is TSC? The Tuberous Sclerosis Alliance website. Accessed June 8, 2017. http://www.tsalliance.org/about-tsc/what-is-tsc/

Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis

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