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目的熟悉结节性硬化症(tuberous sclerosis,TS)的特征性皮肤表现和皮肤以外的临床表现,使皮肤科医生能早期正确诊断TS。方法回顾性分析11例TS患者的临床资料和辅助检查,并复习相关文献。结果 11例TS患者的皮肤表现有面部血管纤维瘤(7/11)、腰骶部鲨革样斑(5/11)、色素脱色斑(4/11)、多发性甲周纤维瘤(1/11)和前额纤维斑块(1/11)。TS患者可出现癫痫(6/11)、智力障碍(3/11)、肾血管平滑肌脂肪瘤(2/11)、多发性肾囊肿(1/11)等皮肤外系统损害。结论皮肤科医生应重视TS患者的典型皮损以及皮肤外的症状和体征,掌握TS的诊断标准。TS的临床表现随年龄增长而相继出现,疑似病例需经长期的临床随访才能确诊。
Purpose Familiar with the characteristic skin manifestations of tuberous sclerosis (TS) and clinical manifestations beyond the skin, enable dermatologists to correctly diagnose TS early. Methods Retrospective analysis of 11 cases of TS patients with clinical data and laboratory examinations, and review the relevant literature. Results The skin of 11 patients with TS showed facial fibroadenoma (7/11), lumbosacral shark leather (5/11), pigmented stain (4/11), multiple pericytes / 11) and prefrontal fibrosis (1/11). TS patients may experience epilepsy (6/11), mental retardation (3/11), renal angiomyolipoma (2/11), multiple renal cysts (1/11) and other skin damage outside the system. Conclusion Dermatologists should pay attention to the typical lesions of TS patients and the symptoms and signs outside the skin, to master the diagnostic criteria of TS. The clinical manifestations of TS have appeared with age, and suspected cases need long-term clinical follow-up to confirm.