Goltz综合征一例

摘要

A 9-year-old female presented with asymptomatic red-brownish macules, patches and plaques on the face, trunk and extremities since birth. Some linear and pigmented lesions were distributed along Bl￣aschko lines. There were several fat hernias located on the left leg and papilloma lesions around anus. Ears and teeth were deformed. Biopsy of lesion revealed absence of collagen and elastic fibers in dermis. The diag￣nosis of Goltz syndrome was made.%患者，女，9岁。生后即见面部、躯干和四肢有多个红褐色斑、斑片及斑块，无自觉症状。部分线状或色素性斑沿Blaschko线分布，左小腿见数个脂肪性疝，肛周见多个乳头瘤状皮损，耳廓和牙齿畸形。组织病理示：真皮胶原纤维和弹力纤维缺如。根据临床和组织病理学表现诊断为Goltz综合征。