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| 皮肤僵硬综合征一家系调查并文献复习 | |
| 引用本文： | 陈敏,孟紫媛,唐利利,张峥,陈连军,张学军. 皮肤僵硬综合征一家系调查并文献复习[J]. 中国麻风皮肤病杂志, 2020, 36(6): 323-326. DOI: 10.12144/zgmfskin202006323 |
| 作者姓名： | 陈敏 孟紫媛 唐利利 张峥 陈连军 张学军 |
| 作者单位： | 1安徽医科大学第一附属医院皮肤性病科，合肥，230022；2复旦大学附属华山医院皮肤性病科，上海，200040 |
| 摘 要： | 皮肤僵硬综合征是一种罕见的遗传性皮肤病,我们报道一家系。先证者为11岁,男孩。3岁半时发现右大腿内侧皮肤僵硬,后渐累及右侧小腿、右侧臀部、腰部、腹部,其上毳毛增多、增粗。5岁时右膝关节活动受限,结合临床表现及组织病理检查诊断为皮肤僵硬综合征。共调查家系4代27人,其中3人患病,男2例,女1例。对其系进行易感基因的突变筛查,未能找到其致病突变。 |
| 关 键 词： | 皮肤僵硬综合征 |
Stiff skin syndrome: a pedigree analysis and literature review |
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| CHEN Min,MENG Ziyuan,TANG Lili,ZHANG Zheng,CHEN Lianjun,ZHANG Xuejun. Stiff skin syndrome: a pedigree analysis and literature review[J]. China Journal of Leprosy and Skin Diseases, 2020, 36(6): 323-326. DOI: 10.12144/zgmfskin202006323 | |
| Authors: | CHEN Min MENG Ziyuan TANG Lili ZHANG Zheng CHEN Lianjun ZHANG Xuejun |
| Affiliation: | 1 Department of Dermatology and Venerology, The First Affiliated Hospital of Anhui Medical University, Institute of Dermatology, Anhui Medical University, Heifei 230022, China; 2 Department of Dermatology and Venerology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China |
| Abstract: | Stiff skin syndrome (SSS) is a rare hereditary dermatosis. We reported a pedigree of SSS. The proband was a 11-year-old boy and the onset age was three and a half years. The proband presented with stiff skin on the right thigh, and gradually expand to the right calf, right hip, waist and abdomen, with excess vellus hairs on the lesions. At the age of 5, the movement of right knee was limited. The diagnosis of SSS was made according to the clinical manifestation and pathological features. Twenty-seven persons in 4 generations were investigated, and 3 patients (2 males and 1 female) were diagnosed as having SSS. No pathogenic mutation was detected in this family. |
| Keywords: | stiff skin syndrome |
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