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SIGNS OF TSC (CLINICAL MANIFESTATIONS)

Links to detailed information about each of the manifestations:

• Heart Involvment
• Brain Involvement
• Psychiatric and Behavioral Involvement
• Lung Involvement
• Kidney Involvement
• Skin Involvement
• Eye Involvement
• Other Organ Involvement

First described in the 1880s, tuberous sclerosis complex (TSC), also known as Bourneville's Disease, is a genetic disease that affects multiple organs. It can cause tumors in the skin, kidneys, brain, heart, eyes, lungs, teeth as well as other organ systems.

In most individuals, the disease affects only some of these organs. The severity of TSC can range from mild skin abnormalities to, in severe cases, mental retardation or renal failure. Many TSC manifestations also develop later in life. Most individuals who are mildly affected by TSC lead active and productive lives, but it is important to realize that TSC is a life-long companion and individuals should receive continuous follow-up care.

Due to better testing methods, estimates of TSC frequency have risen dramatically in recent years as individuals with less-severe manifestations of TSC are identified. Population-based studies suggest a prevalence of 1 in 9,407 individuals, but recent estimates place the prevalence to be 1 in 6,000 live births. It is estimated that approximately 50,000 Americans and 1 million individuals worldwide have TSC.

View on online presentation about TSC featuring Mustafa Sahin, M.D., Ph.D., Director, Multi-Disciplinary TSC Clinic, Harvard Medical School, Children's Hospital Boston.