Tuberous Sclerosis

Tuberous sclerosis (TS) is a rare genetic disorder that affects many different organs through the growth of nonmalignant tumors. TS is also referred to as tuberous sclerosis complex or Bourneville disease, after Désiré-Magloire Bourneville, a French neurologist who coined the term sclerose tubereuse due to the cerebral lesions being referred to as tubers. Tubers are malformed areas of the brain. TS is caused by mutations in tumor suppressor genes TSC1 (hamartin) and TSC2 (tuberin). When these genes are mutated, inhibition of cell proliferation is released, allowing for development and growth of tumors. TS can affect almost any organ system, including the kidneys, skin, lungs, heart, liver, and eyes. TS occurs in an estimated 1 in 6,000 births, which results in 40,000 people in the United ...