What is tuberous sclerosis?
Tuberous sclerosis (TS), also known as tuberous sclerosis complex, is a rare genetic condition. The main features of TS are the formation of benign (not cancerous) tumors throughout the body, most often in the brain, eyes, heart, kidneys, skin and lungs. These tumors are often referred to as hamartomas. Although these tumors are benign, they can cause problems because they grow and can damage nearby organs or structures in the body. Most individuals living with TS also have skin findings as well such as patches of very light-colored skin, areas of raised and thickened skin, and growths under the nails. Having said this, the way in which TS affects one person can be very different from how it affects another person. The signs and symptoms will depend on the number and severity of the organs affected by the condition. For example, some people living with TS will have neurological problems such as seizures beginning in infancy, while others may only have problems with their skin or their kidneys.
TS is caused by a change (mutation) in one of two genes: TSC1 or TSC2 . 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: 2020-01-16
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