结节性硬化症11例临床分析

Clinical analysis of 11 patients with tuberous sclerosis

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。

Objective To have an intimate knowledge of the typical cutaneous manifestation of tuberous sclerosis （TS） and to help the dermatologist diagnose correctly and detect important systemic involvement early. Methods The clinical data of 11 patients with TS were analyzed retrospectively and reviewed with relevant literature. Results The common cutaneous manifestations of TS were facial angiofibromas （7/11）, lumbar connective tissue nevus（5/11）, hypomelanocytic maculae（4/11）, multiple periungual fibromas （1/11）, and prefrons fibrous plaque（1/11）. TS was often associated with epilepsy（6/11）, mental retardation（3/11）, renal angiomyolipomas（2/11）, multiple renal cysts（1/11）, et al. Conclusion Dermatologists should screen for noncutaneous sings and symptoms, which are also clinical diagnostic criteria of TS. Some diagnostic criteria may not manifest until later in life, therefore, suspected patients should accept long-term follow-up examination. Since there is no special therapy for TS, the cerebral, renal and cardiac affections must be taken into account for the correct management of these patients.