皮肤僵硬综合征五例分析

Aanalysis of five patients with stiff skin syndrome

目的加深对皮肤僵硬综合征临床及组织病理特点的认识。方法回顾性分析5例皮肤僵硬综合征患者的临床表现、组织病理学特点和治疗反应。结果5例患儿发病年龄3个月至4岁，就诊年龄5～9岁，病程2～6年。典型皮疹为一侧下肢及腹部、臀部皮肤木板样坚硬质地，表面毳毛增多，受累关节活动受限。组织病理示真皮内胶原纤维增生，伴有黏多糖沉积。药物治疗的疗效不明显。结论皮肤僵硬综合征于出生后或婴幼儿早期发病，以一侧肢体受累为主，可累及对侧，需与硬皮病等鉴别，临床尚缺乏有效的治疗手段。

Objective To further investigate the clinical and histopathological characteristics of stiff skin syndrome （SSS）. Methods The clinical manifestation, histopathological characteristics and treatment response of SSS were analyzed retrospectively in five patients. Results The age of clinic visits varied from 5 to 9 years, the age at onset of SSS from 3 months to 4 years, and clinical course from 2 to 6 years in these patients. SSS was characterized by stone-hard indurations of skin of unilateral lower limbs, the abdomen and buttocks, as well as mild hypertrichosis and limitation of joint mobility. Histopathological examination revealed collagen fiber hyperplasia in the dermis with mucopolysaccharide deposition. Medical treatment resulted in no obvious improvement. Conclusions SSS often occurs at birth or in early infancy with the involvement of unilateral limbs in most cases and bilateral limbs in some cases. It should be differentiated from some diseases such as scleroderma. No effective treatment is available for SSS at present.