Portocarrero Larissa Karine Leite, Quental Klícia Novais, Samorano Luciana Paula, Oliveira Zilda Najjar Prado de, Rivitti-Machado Maria Cecília da Matta
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
An Bras Dermatol. 2018 Jun;93(3):323-331. doi: 10.1590/abd1806-4841.20186972.
Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.
结节性硬化症是一种多系统常染色体显性遗传病，具有完全外显率，可发展为多个器官的错构瘤，如皮肤、中枢神经系统、肾脏和肺部。由于表型变异广泛，该疾病常未被识别。结节性硬化症在每10000名新生儿中就有1例发病，大多数患者在出生后的前15个月内被诊断出来。2012年，在第二届国际结节性硬化症共识会议上对结节性硬化症的诊断标准进行了回顾。诊断基于遗传标准，即通过识别肿瘤抑制基因TSC1和TSC2的失活性致病突变，以及临床标准，包括皮肤、肾脏、肺部、心脏和神经学表现。结节性硬化症的治疗主要包括处理错构瘤引起的症状和预防器官衰竭。建议采用多学科方法，以获得更好的临床结果。
