Cassetty Christopher T
Ronald O. Perelman Department of Dermatology, New York University, USA.
Dermatol Online J. 2004 Nov 30;10(3):17.
A 26-year-old woman with tuberous sclerosis complex had numerous cutaneous manifestations and systemic manifestations that included subependymal nodules, pulmonary lymphangioleiomyomatosis, renal cysts, and bilateral renal angiomyolipomas. Tuberous sclerosis is a hamartomatous disease with defects in either hamartin (TSC1) or tuberin (TSC2) that can be of autosomal dominant inheritance or spontaneous mutation.
一名患有结节性硬化症复合体的26岁女性有许多皮肤表现和全身表现，包括室管膜下结节、肺淋巴管平滑肌瘤病、肾囊肿和双侧肾血管平滑肌脂肪瘤。结节性硬化症是一种错构瘤性疾病，由错构瘤蛋白（TSC1）或结节蛋白（TSC2）缺陷引起，可呈常染色体显性遗传或自发突变。
