| 伴大疱的先天性皮肤异色症1家3例报告 |
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| 引用本文： | 赵小东,高天文,张海龙,刘玉峰,范雪莉,党育平. 伴大疱的先天性皮肤异色症1家3例报告[J]. 临床皮肤科杂志, 2004, 33(2): 98-100 |
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| 作者姓名： | 赵小东 高天文 张海龙 刘玉峰 范雪莉 党育平 |
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| 作者单位： | 第四军医大学西京医院皮肤科,陕西,西安,710032;第四军医大学西京医院皮肤科,陕西,西安,710032;第四军医大学西京医院皮肤科,陕西,西安,710032;第四军医大学西京医院皮肤科,陕西,西安,710032;第四军医大学西京医院皮肤科,陕西,西安,710032;第四军医大学西京医院皮肤科,陕西,西安,710032 |
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| 摘 要： | 报告1家3例患伴大疱的先天性皮肤异色症。先证者(15岁)及其姐(17岁)具有先天性皮肤异色，自发性或创伤性水疱形成，进行性皮肤萎缩、光敏感，出血性牙龈炎及甲营养不良性改变。皮损组织病理检查：皮表萎缩，真表皮间裂隙形成。电镜检查：棘细胞内含大量黑素颗粒。染色体图像分析显示核型为46.XX.1h^ ，结构畸变率为lh^ :100％。其弟出生8d后出现水疱，8个月时死亡。
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| 关 键 词： | 皮肤异色症 先天性 大疱性 |
| 文章编号： | 1000-4963(2004)02-0098-03 |
Three cases of congenital poikiloderma with bullae in a family |
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| ZHAO Xiao-dong,GAO Tian-wen,ZHANG Hai-long,LIU Yu-feng,FAN Xue-li,DANG Yu-ping. Three cases of congenital poikiloderma with bullae in a family[J]. Journal of Clinical Dermatology, 2004, 33(2): 98-100 |
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| Authors: | ZHAO Xiao-dong GAO Tian-wen ZHANG Hai-long LIU Yu-feng FAN Xue-li DANG Yu-ping |
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| Abstract: | Three cases of congenital poikiloderma with bullae (Kindlers syndrome) in a family are reported. The proband and her elder sister were presented with the congtifnl poikiloderma, idiopathic or traumatic blister, progressive atrophy of the skin, light sensitivity, hemorrhagic gingivitis and dystrophic nail. Histopathological examination showed epidermal atrophy, and dermoepidermal cleft. Electron-microscopic study demonstrated large numbers of melanosomes within the prickle layer keratinocytes. Chromosomal graphic analysis: 46.XX.1h+, structural aberration rate: 1h+:100%. Blisters were founa in her younger brother of the proband at 8 days after birth, and he died 8 months later. |
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| Keywords: | poikiloderma congenital bullae |
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