Oral and skin manifestations of tuberous sclerosis complex

Abstract

Tuberous sclerosis complex is a genetic disease characterized by multisystemic hamartomas with variable and non-specific clinical manifestations. The disease is associated with mutations of genes encoding the proteins hamartin and tuberin. The hamartin/tuberin complex plays an anti-tumor function by inhibiting mammalian target of rapamycin. The diagnostic criteria for the disease were reviewed at a consensus conference in 2012. Evidence of mutations of tuberous sclerosis complex 1 or 2 genes has become a clinical and independent diagnostic criterion. Among the clinical criteria used, two oral criteria include the presence of three or more enamel pits and the presence of two or more oral fibromas. Several dermatological criteria are included within these criteria and are of interest in our specialty when these are localized at the cephalic extremity.