Tuberous Sclerosis

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder caused by mutations in one of two different genes called. TSC1 and. TSC2. The protein products of these genes, hamartin and tuberin, are involved in a complicated schema of normal cell signaling pathways. A mutation in either TSC gene disrupts these pathways, resulting in alteration in cellular differentiation, growth, and proliferation. As a consequence, typically benign lesions and tumors may develop in many organ systems, including brain, skin, kidney, eyes, heart, and lungs. Surveillance monitoring for potential complications in these organs can help minimize the morbidity of the disease. New treatments based on knowledge of the molecular pathogenesis of TSC are being developed.