Tuberous sclerosis complex: an update

Fanling Integrated Treatment Centre, 6/F, Fanling Health Centre, 2 Pik Fung Road, Fanling, New Territories Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous syndrome, may be caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterised by cutaneous changes, neurologic conditions and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. Until recently, the mainstay of management of TSC is supportive and treatment of complications. Recent studies have revealed that mammalian target of rapamycin (mTOR) inhibitors are promising in the treatment of this condition.This paper reviews the literature to provide a current understanding of the disease.