Tuberous sclerosis

background

Tuberous sclerosis (TSC), also called Bourneville's disease, is a rare genetic disorder that causes noncancerous (benign) tumors to grow in many parts of the body, such as the brain, eyes, heart, kidneys, lungs, and skin.
Symptoms of TSC are highly variable, depending on where the tumors develop. The symptoms of TSC range from very mild to debilitating. For instance, some people may have discolored patches of skin, while others may have seizures or intellectual disabilities (formerly called mental retardation). In rare cases, tumors may develop inside vital organs, leading to organ dysfunction. Tumors in organs, such as the brain, may be life-threatening.
Some people may experience symptoms of TSC at birth. However, most do not develop symptoms until early childhood. Some people may not develop noticeable symptoms until adulthood.
Researchers estimate that TSC affects one out of 5,800-30,000 people worldwide.
Although there is currently no cure for TSC, treatments are available to reduce the symptoms. Common treatments include medications (e.g. anti-seizure drugs, antipsychotic drugs, and/or stimulants), educational and occupational therapy, dermabrasion (a surgical procedure to improve the texture and appearance of skin that has been affected by skin lesions), and surgery. With proper treatment, most people who are mildly to moderately affected by TSC are able to live long, healthy lives. However, people with a more serious form of TSC that affects the vital organs are more likely to experience life-threatening complications. About 25% of severely affected infants die before the age of 10 and 75% die before the age of 25.

Related Terms

Autism, angiofibromas, angiomyolipomas, benign tumors, Bourneville disease, Bourneville's disease, cardiac rhabdomyomas, cognitive disabilities, dermatofibromas, epilepsy, intellectual disabilities, kidney cancer, kidney failure, learning disabilities, hamartin, lung failure, mental retardation, neurological problems, noncancerous tumors, polycystic kidney disease, renal cell carcinoma, seizures, TSC, tuberin, tuberous sclerosis complex.