获得性大疱性表皮松解症
Epidermolysis bullosa acquisita
定义 英文原文（暂无中文）
A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.
别名
获得性大疱性表皮松解症
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、老年期、婴儿期
- 患病率
- <1 / 1 000 000（Europe）
临床表型 10
极常见 99–80%2
- 皮肤的异常起疱 HP:0008066
- 毛发形态异常 HP:0001595
常见 79–30%1
- 粟丘疹 HP:0001056
偶见 29–5%7
- 腹痛 HP:0002027
- 非典型皮肤瘢痕 HP:0000987
- 糖尿病 HP:0000819
- 皮肤色素沉着 HP:0000953
- 大肠炎症 HP:0002037
- 甲营养不良 HP:0008404
- 瘙痒 HP:0000989
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）