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结节性硬化症(tuberous sclerosis complex,TSC)是一种较常见的常染色体显性遗传性神经皮肤综合征,外显率可变,其发生率为1/9500～1/20000[1],男女比例为1.44∶1[2],可累及中枢神经系统、皮肤、肾脏、视网膜、心脏等全身多个器官,典型的表现为临床三联征:癫痫、智力障碍、面部血管纤维瘤[3],中枢神经系统的病理改变也颇具特征性。本文报告1例以临床上伴有面部多发血管纤维瘤、皮肤咖啡斑、脱色斑为特征的女性结节性硬化症患者,与诊断标准的要求相符。结合临床表现不同类型,本文对疾病的发生、遗传问题的认识和临床诊断进行了讨论。
Tuberculous sclerosis complex (TSC) is a more common autosomal dominant neurodermatosis with a variable penetrance rate of 1/9500 to 1/2000 [1], Male to female ratio of 1.44: 1 [2], can affect the central nervous system, skin, kidneys, retina, heart and other multiple body organs, the typical performance of the clinical triad: epilepsy, mental retardation, facial fibrovascular tumors [3] Central nervous system pathological changes are quite characteristic. This article reports 1 case of clinical women with facial multiple angiofibroma, skin coffee stains, bleaching spots characterized by female patients with tuberous sclerosis, consistent with the requirements of diagnostic criteria. Combined with different types of clinical manifestations, this article discusses the occurrence of diseases, the understanding of genetic problems and clinical diagnosis.