条纹状掌跖角化病
Striate palmoplantar keratoderma
ORPHA:50942疾病
定义 英文原文（暂无中文）
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
别名
Wachter型变异型掌跖角化病
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DSG1 | desmoglein 1 | Disease-causing germline mutation(s) in |
| DSP | desmoplakin | Disease-causing germline mutation(s) in |
| KRT1 | keratin 1 | Disease-causing germline mutation(s) in |
临床表型 3
极常见 99–80%1
- 掌跖角化症 HP:0000982
常见 79–30%2
- 指（趾）甲形态异常 HP:0001597
- 毛发形态异常 HP:0001595
外部标识与链接
OrphanetOMIM:148700OMIM:607654OMIM:612908MONDO:0018865ICD-10 Q82.8ICD-11 EC20.31ClinicalTrials.gov 检索
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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）