| 常染色体隐性遗传的Hallopeau-Siemens型营养不良型大疱性表皮松解症1例 |
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| 引用本文： | 孙莹,姜薇,陈喜雪,朱学骏.常染色体隐性遗传的Hallopeau-Siemens型营养不良型大疱性表皮松解症1例[J].临床皮肤科杂志,2005,34(8):526-527. |
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| 作者姓名： | 孙莹 姜薇 陈喜雪 朱学骏 |
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| 作者单位： | 北京大学第一医院皮肤科,北京,100034;北京大学第一医院皮肤科,北京,100034;北京大学第一医院皮肤科,北京,100034;北京大学第一医院皮肤科,北京,100034 |
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| 摘 要： | 报告1例常染色体隐性遗传的Hallopeau—Siemens型营养不良型大疱性表皮松解症。患者男，27岁。周身皮肤反复起水疱、破溃27年。患者出生后即出现四肢伸侧皮肤缺损，双手十指指甲完全缺如，双足十趾融合形成袜套样并趾。口腔黏膜反复发生溃疡，形成瘢痕致舌不能完全伸出。皮肤组织病理检查示表皮下水疱。透射电镜示：表皮下裂隙，致密板下锚丝纤维形态异常。
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| 关 键 词： | 表皮松解症 大疱性 营养不良型 Hallopeau-Siemens型 常染色体隐性遗传 |
| 文章编号： | 1000-4963(2005)08-0526-02 |
| 修稿时间： | 2004年10月8日 |
Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa: a case report |
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| SUN Ying,JIANG Wei,CHEN Xi-xue,ZHU Xue-jun.Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa: a case report[J].Journal of Clinical Dermatology,2005,34(8):526-527. |
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| Authors: | SUN Ying JIANG Wei CHEN Xi-xue ZHU Xue-jun |
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| Abstract: | A case of Hallopeau- Siemens type of recessive dystrophic epidermolysis bullosa is reported. A 27- year- old manwas born with bullae and erosions predominantly on his trunk, hands, feet, elbows and knees. His feet showed fusions of 10toes into mittenlike deformities and complete loss of finger nails with scarring. The oral mucosa was also erosive and thetongue could not extend out completely. Histological examination of the skin biopsy revealed a subepidermal blister. Electronmicroscopy showed no normal anchoring fibrils at the basement membrane zone. |
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| Keywords: | bullosa epidermolysis dystrophic recessive Hallopeau- Siemens type |
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