单纯型大疱性表皮松解症，常染色体隐性遗传K14型
Autosomal recessive generalized epidermolysis bullosa simplex
ORPHA:89838疾病
定义 英文原文（暂无中文）
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.
别名
KRT14相关常染色体隐性遗传性单纯型大疱性表皮松解症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KRT5 | keratin 5 | Disease-causing germline mutation(s) in |
| KRT14 | keratin 14 | Disease-causing germline mutation(s) in |
临床表型 20
常见 79–30%8
- 皮肤的异常起疱 HP:0008066
- 指甲形态异常 HP:0001231
- 趾甲形态异常 HP:0008388
- 角化过度 HP:0000962
- 口腔粘膜水泡 HP:0200097
- 掌跖起泡 HP:0007446
- 掌跖角化 HP:0000972
- 皮肤糜烂 HP:0200041
偶见 29–5%12
- 趾甲缺失 HP:0001802
- 先天性躯干或四肢表皮发育不全 HP:0007589
- 萎缩性瘢痕 HP:0001075
- 趾甲营养不良 HP:0001810
- 发育迟滞 HP:0001508
- 生殖器水泡 HP:0031464
- 皮肤色素沉着 HP:0000953
- 皮肤色素减退 HP:0001010
- 粟丘疹 HP:0001056
- 色素痣 HP:0003764
- 瘙痒 HP:0000989
- 甲纵嵴 HP:0001807
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）