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A to Z: Tuberous Sclerosis

A to Z: Tuberous Sclerosis

May also be called: TS, Tuberous Sclerosis Complex, TSC, Bourneville Disease, Epiloia

Tuberous sclerosis (TOO-buh-rus skluh-ROH-sus) is a genetic disorder that can cause noncancerous tumors to form in many parts of the body. "Genetic disorder" means it's the result of a change in genes that's either inherited (passed on from parent to child) or happens during development in the womb.

More to Know

Tuberous sclerosis, or TS, is a neurocutaneous syndrome — a disorder that can cause tumors to form in various parts of the body. (A tumor is a lump or mass that can form when cells grow abnormally or out of control.) With TS, tumors can develop in the brain, eyes, kidneys, heart, lungs, bones, or skin. TS is caused by mutations in genes that help control cell growth. Children inherit the mutations from their parents, and each child of a parent with TS has a 50% chance of having it. TS is rare, happening in about 1 in 6,000 births.

TS symptoms can be different depending on the location of the tumors. TS is often first recognized when a child has seizures or shows developmental delays. Other common symptoms include behavior problems and problems with the kidneys, heart, lungs, and eyes. TS can also cause skin abnormalities, such as patches of light-colored or thickened skin.

Doctors prescribe medicine to control seizures caused by TS. Children may also need surgery for heart or kidney tumors, medicine to manage high blood pressure caused by kidney disease, and skin creams and ointments to treat skin problems. Treatment for children with TS who have developmental delays usually also includes physical therapy, occupational therapy, and speech therapy.

Keep in Mind

Many children with TS have mild symptoms or never develop symptoms and have a normal life expectancy. Others can be severely disabled and have a shortened life span. There is no cure for TS, but researchers are looking at new medicine that may help delay tumor growth and shrink tumors in people with TS.

All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.