Tuberous Sclerosis Complex: A Review

Abstract

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia. Accurate diagnosis is essential in implementing appropriate surveillance and treatment to patients with this disorder. Specific guidelines for diagnosis, surveillance, and management have been proposed by the International Tuberous Sclerosis Complex Consensus Group. Treatment of tuberous sclerosis complex is in part symptomatic; however, for certain clinical manifestations, specific treatments may be indicated. [Pediatr Ann. 2017;46(4):e166-e171.].