Tuberous Sclerosis Complex

Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas–benign tumors or malignant cancers affecting the skin and brain–and also involving the heart, kidneys, lungs and eyes in ways that can vary across the lifetime. It also occurs and varies across generations. Among medical subspecialists, the pediatric neurologist is often responsible for making the initial diagnosis when the affected individual presents with infantile spasms or another early-onset epilepsy syndrome. In recent decades, the identification of the responsible genes and gene products forming the mechanistic target of rapamycin complex, previously termed the mammalian target of rapamycin, not only has expanded our understanding of tuberous sclerosis pathophysiology, but has also inspired the search for targeted interventions.