皮肤僵硬综合征1例

A Case of Stiff Skin Syndrome

患儿男,9岁。出生后9个月时被发现双侧臀部皮肤坚硬如石,并逐渐累及双侧髋部、腰部及大小腿。双侧臀上部、臀外侧及股外侧皮肤毳毛增多、增粗。皮损组织阿新蓝染色显示真皮内有黏多糖沉积。诊断:皮肤僵硬综合征。

A 9-year-old hny with stony-hard skin on his bilateral buttocks was first noted at 9 months postnatal age. Then, the store-hard skin was gradually lound on his bilateral hips, lumbar region and legs. Moreover, exvess and thick vellus hairs were presenled on his upper buttocks, laleral buttocks and lateral thighs. Histo- logical examination showed deposils of mucopolysaceharides in the dermis by alcian blue staining. The diagnosis was stiff skin syndrone.