Alshaiji Jasem M, Spock Christopher R, Connelly Elizabeth A, Schachner Lawrence A
Department of Dermatology & Cutaneous Surgery, University of Miami - Miller School of Medicine, Miami, Florida, USA.
Dermatol Online J. 2012 Jul 15;18(7):8.
Tuberous sclerosis is a rare genetic disorder presenting clinically with multiple hamartomas in different organs including the skin. The cutaneous manifestations include facial angiofibromas, hypopigmented macules (ash leaves), connective tissue nevi (shagreen patches), and periungual fibromas (Koenen tumors). We present a case of facial angiofibromas in a mosaic pattern tuberous sclerosis in an 11-year-old boy.
结节性硬化症是一种罕见的遗传性疾病,临床上表现为包括皮肤在内的不同器官出现多发性错构瘤。皮肤表现包括面部血管纤维瘤、色素减退斑(叶状白斑)、结缔组织痣(鲨革斑)和甲周纤维瘤(科恩瘤)。我们报告一例11岁男孩,其患有镶嵌型结节性硬化症,表现为面部血管纤维瘤。