Hopf疣状肢端角化病
Acrokeratosis verruciformis of Hopf
ORPHA:79151疾病
定义 英文原文（暂无中文）
A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic 'church spire' appearance, with no acantholysis nor dyskeratosis associated.
别名
AKV of Hopf
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期、婴儿期、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ATP2A2 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 12
极常见 99–80%5
- 表皮棘皮症 HP:0025092
- 颗粒层增厚 HP:0025114
- 角化过度 HP:0000962
- 甲营养不良 HP:0008404
- 肤色丘疹 HP:0025512
常见 79–30%4
- 白甲 HP:0001820
- 点状掌跖角化 HP:0007530
- 皮肤斑块 HP:0200035
- 疣 HP:0200043
偶见 29–5%1
- 无甲症 HP:0001798
排除 0%2
- 皮肤棘层松解 HP:0100792
- 角化不全 HP:0001036
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）