The tuberous sclerosis complex: a comprehensive review

摘要: Tuberous sclerosis was first reported by von Recklinghausen in 1862 and named Bourneville 1880. Transmission is autosomal dominant, but roughly 65% to 85% of the patients arise via spontaneous mutation. The incidence tuberous estimated between 1:6,000 1:10,000 individuals. notion “classic triad” epilepsy, mental retardation, facial angiofibromata (adenoma sebaceum) has been frequently cited literature. However, few affected individuals develop all aforementioned signs, emphasis these limited features misleading. It seems more appropriate recognize that complex may present as a wide spectrum disease. diagnostic criteria for Sclerosis Complex were revised subcommittee at recent Consensus Conference. These clinical are outlined Table 1. Pathologically, disorder cellular migration, proliferation, differentiation. Manifestations be systemic variable. A variety associated lesions have literature including subependymal brain nodules calcifications, astrocytomas, retinal phacomas, sclerotic bone lesions, dental enamel pitting, hamartomatous or cystic brain, heart, lungs, kidneys, spleen, liver, uterus, soft tissues. Although many manifestations secondary growths, true neoplasms do occur, particularly kidneys brain. Depending on degree expression organ involvement specifically, select experience significant morbidity mortality. Advances genetics, imaging modalities, medical therapies, surgical techniques unmasked some mysteries surrounding this fascinating and, undoubtedly, will continue affect complications.