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:
intellectual or learning disabilities
hyperactivity, aggression or other behavior problems
trouble with social interaction
Tumors that develop in the KIDNEY may cause:
life-threatening kidney problems
Tumors that develop in the LUNGS may cause:
shortness of breath
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.