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目的总结分析结节性硬化症(Tuberous sclerosis complex,TSC)的基本临床表现。方法回顾性分析具有较完整资料的临床确诊TSC患者共69例。结果 69例中,有癫癎者67例(97%),39例(57%)有不同程度的智能障碍;所有患者(100%)至少具有1种皮肤损害,其中色素脱失斑94%,面部血管纤维瘤88%,鲨鱼皮样斑52%,咖啡牛奶斑26%,非创伤性指、趾甲周纤维瘤19%。散发性患者与家族性患者临床表现无明显差异。结论按照TSC最新诊断标准,仅依靠皮肤损害特征就可以使近90%TSC患者得以明确诊断,癫癎具有很好的辅助和提示作用。
Objective To summarize the basic clinical manifestations of Tuberous sclerosis complex (TSC). Methods A total of 69 clinically diagnosed TSC patients with complete data were retrospectively analyzed. Results Of the 69 patients, 67 (97%) had epilepsy and 39 (57%) had various degrees of mental retardation. All patients (100%) had at least 1 type of skin lesion with 94% 88% of facial vascular fibroids, 52% of shark skin spots, 26% of coffee milk spots, noninvasive fingers and 19% of toenail fibroids. Sporadic patients and familial patients with no significant difference in clinical manifestations. Conclusion According to the latest diagnostic criteria of TSC, only 90% of TSC patients can be diagnosed by relying solely on the characteristics of skin lesions. Epilepsy has good auxiliary and prompt effects.