掌跖角化病
Transgrediens et progrediens palmoplantar keratoderma
ORPHA:495疾病
定义 英文原文(暂无中文)
A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.
别名
逾越型和进育型掌跖角化病
基本事实
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 18
极常见 99–80%1
- 弥漫性掌跖角化过度 HP:0007447
常见 79–30%13
- 口角炎 HP:0030318
- 指甲营养不良 HP:0008391
- 趾甲营养不良 HP:0001810
- 面部红斑 HP:0001041
- 手指屈曲挛缩 HP:0012785
- 高腭 HP:0000218
- 甲异常凸起 HP:0001795
- 非表皮松解性掌跖角化症 HP:0007404
- 掌部角化过度 HP:0010765
- 跖部角化过度 HP:0007556
- 复发性细菌性皮肤感染 HP:0005406
- 复发性皮肤真菌感染 HP:0011370
- 皮肤增厚 HP:0001072
偶见 29–5%4
- 羊膜带狭窄环 HP:0009775
- 红斑 HP:0025474
- 皮肤苔藓样变 HP:0031452
- 厚甲 HP:0001805
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)