Tuberous Sclerosis

Abstract

Tuberous sclerosis (or tuberous sclerosis complex) is a multisystem disorder characterized by tumor‐like lesions (hamartomas) in the brain, skin, and other organs and is often associated with seizures and mental retardation. The major diagnostic features are facial angiofibromas, forehead plaques, ungual fibromas, hypomelanotic macules, shagreen patches, retinal astrocytic hamartomas, cortical tubers, subependymal nodules, subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. The disorder shows autosomal dominant inheritance with approximately two‐thirds of affected children being born to unaffected parents as the result of a new dominant mutation. The condition is caused by mutations in either the TSC1 gene (chromosome 9q34) or the TSC2 gene (chromosome 16p13.3). The management of tuberous sclerosis presents many challenges because of the range of organs involved, the different ages at which the manifestations can appear, and the wide variation in severity.