小结
定义
病史和体格检查
关键诊断因素
- 大疱性表皮松解症（EB）家族史
- 皮肤机械脆性
- 复发性水疱和糜烂
- 伤口愈合差
- 出生时或婴儿早期出现皮肤体征
- 在出生后 1-2 年内起水疱
- 全身性或局限性皮肤受累
- 粟丘疹、瘢痕及甲营养不良
- 未出现粟丘疹、瘢痕及甲营养不良
- 旺盛的肉芽组织
- 疱疹样水疱
- 假性并指
- 牙釉质发育不全
- 网格状色素沉着过度
- 肌营养不良
- 气管喉狭窄
- 严重上气道疾病
- 儿童中期或后期发作
- 反向（糜烂）、肢端或向心型受累皮肤分布
- 严重的心肌病
危险因素
- EB 家族史
诊断性检查
首要检查
- 免疫荧光抗原检测
- DNA 突变分析
- 透射电子显微镜检查
治疗流程
疑似气管喉狭窄或阻塞
疑似全身性感染
单纯型大疱性表皮松解症（EBS）、交界型 EB（JEB）、营养不良型 EB（DEB）、Kindler EB
撰稿人
作者
Ajoy Bardhan, BSc, MBBS, MRCP
Clinical Lecturer in Dermatology
Honorary Consultant Dermatologist
Birmingham Medical School
University of Birmingham
University Hospitals Birmingham NHS Foundation Trust
Birmingham
UK
利益声明
AB has previously given a sponsored lecture titled Skin Microbiome 101 at a 'Beauty of the Skin' Educational event sponsored by La Roche Posay, is an author of one or more references cited in this topic, and has also attended a non-promotional educational lecture programme funded by Amryt Pharmaceuticals
鸣谢
Dr Ajoy Bardhan would like to gratefully acknowledge Professor Jo-David Fine, the previous contributor to this topic.
利益声明
JDF is an author of a number of references cited in this topic.
同行评议者
Helmut Hintner, MD
Professor and Chair
Department of Dermatology
Paracelsus Private Medical School
Salzburg
Austria
利益声明
HH is an author of a reference cited in this topic.
Nanette Silverberg, MD
Clinical Professor of Dermatology
Columbia University College of Physicians and Surgeons
New York City
NY
利益声明
NS declares that she has no competing interests.
鉴别诊断
- 表皮松解性角化过度（大疱性先天鳞癣样红皮病）
- 先天性卟啉病
- 皮肤发育不全
更多 鉴别诊断指南
- 遗传性大疱性表皮松解症和其他皮肤脆性疾病的重新分类共识
- 为皮肤病患者提供护理：为成员提供指导和资源
更多 指南
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