Tuberous Sclerosis Complex

Abstract

Tuberous Sclerosis Complex (TSC) is a rare, autosomal dominant, neurocutaneous disease characterized by the development of benign tumors that affect the brain, skin, retina, and other viscera. The clinical presentation is variable between and within families with respect to the number and severity of clinical manifestations. Nearly all patients have one or more dermatological manifestations, the most common being adenoma sebaceum, and most patients have epilepsy. The classic triad of facial adenoma sebaceum, epilepsy, and cognitive deficit (Vogt triad) is present only in one-third of the patients. Published cases of tuberous sclerosis had a maximum of four major clinical criteria. We report a 28-year-old lady with five major criteria for TSC who remained undiagnosed till she presented to the medical outpatient department for an unrelated complaint.