Tuberous sclerosis complex (TSC), is a rare autosomal dominant neurocutaneous syndrome, caused by mutations in either the TSC1 or TSC2 gene that encodes hamartin and tuberin respectively. It is characterized by hamartomatous lesions involving skin, brain, kidneys, eyes and heart. Pathologically, tuberous sclerosis is a disorder of cell migration, proliferation and differentiation.
Tuberous sclerosis complex (TSC), also known as Bourneville’s disease, is an autosomal dominant neurocutaneous syndrome. It is characterised by neuropsychological manifestations like seizures, autism and cognitive disability and the formation of hamartomas in various sites throughout the body.The management of this condition comprises observation for and symptomatic treatment of complications. Elucidation of the molecular basis of TSC and recent exciting advances in emerging targeted therapy with mTOR…
