What is tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is a rare disease caused by a genetic mutation and marked by noncancerous tumors that grow throughout the body. For many people with TSC, signs and symptoms are evident at birth. Others may not be diagnosed until childhood or later.

Signs and symptoms vary depending on which organs are affected and can range from mild to severe.

Tumors that develop in the SKIN may cause:

patches of light-colored skin

thickened areas of skin

facial acne-like lesions

growths beneath or around the nails

Tumors that develop in the BRAIN may cause:

seizures

intellectual or learning disabilities

developmental delays

hyperactivity, aggression or other behavior problems

trouble with social interaction

headaches

Tumors that develop in the KIDNEY  may cause:

life-threatening kidney problems

renal cancer

Tumors that develop in the LUNGS may cause:

coughing

shortness of breath

lung failure

Nearly 50,000 people in the United States are thought to have TSC. The prevalence is one in 6,000 births, according to the Tuberous Sclerosis Alliance.

Molecular genetic testing is available to confirm a diagnosis of TSC, to test at-risk family members or for prenatal diagnosis.

Doctors cannot predict the severity of TSC in an individual. While there is no cure, a variety of medications are used to treat symptoms. Most people with TSC live normal lifespans.

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