迟发性交界型大疱性表皮松解症
Late-onset junctional epidermolysis bullosa
ORPHA:79406疾病
定义 英文原文（暂无中文）
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.
别名
进展性EB
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COL17A1 | collagen type XVII alpha 1 chain | Disease-causing germline mutation(s) in |
临床表型 27
常见 79–30%6
- 皮肤的异常起疱 HP:0008066
- 皮纹病 HP:0007455
- 无甲症 HP:0001798
- 牙釉质发育不全 HP:0006297
- 敏感性皮肤 HP:0001030
- 甲营养不良 HP:0008404
偶见 29–5%5
- 龋齿 HP:0000670
- 多汗症 HP:0000975
- 真皮表皮交界处半小体发育不良 HP:0020117
- 局限性皮损 HP:0011355
- 口腔粘膜水泡 HP:0200097
排除 0%16
- 呼吸系统形态学异常 HP:0012252
- 眼部异常 HP:0000478
- 头皮形态异常 HP:0001965
- 泌尿系统异常 HP:0000079
- 贫血 HP:0001903
- 萎缩性瘢痕 HP:0001075
- 基底细胞癌 HP:0002671
- 皮肤黑色素瘤 HP:0012056
- 胃肠道炎症 HP:0004386
- 生殖器水泡 HP:0031464
- 生长延迟 HP:0001510
- 瘢痕疙瘩 HP:0010562
- 粟丘疹 HP:0001056
- 连指手套状并指 HP:0004057
- 掌跖角化症 HP:0000982
- 鳞状细胞癌 HP:0002860
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）