先天性头皮单纯少毛症
Hypotrichosis simplex of the scalp
ORPHA:90368疾病
定义 英文原文（暂无中文）
A rare alopecia characterized by scalp-limited progressive hair loss. Most of the patients present with normal hair at birth, progressive hair loss starts during the first decade of life and leads to almost complete loss (sparse, fine and short hairs may remain in some patients) of scalp hair by the third decade. Body, axillary and facial hair (including eyebrows, eye lashes and beard) are not affected. Teeth and nails develop normally.
别名
遗传性头皮单纯少毛症
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDSN | corneodesmosin | Disease-causing germline mutation(s) in |
| KRT74 | keratin 74 | Disease-causing germline mutation(s) in |
临床表型 21
极常见 99–80%2
- 绒毛 HP:0002213
- 头发生长缓慢 HP:0100038
常见 79–30%5
- 头皮脱发 HP:0002293
- 表皮棘皮症 HP:0025092
- 角化过度 HP:0000962
- 角化不全 HP:0001036
- 脱发 HP:0002209
偶见 29–5%5
- 过敏性鼻炎 HP:0003193
- 特应性皮炎 HP:0001047
- 循环IgE水平升高 HP:0003212
- 瘙痒 HP:0000989
- 皮肤脱屑 HP:0040189
排除 0%9
- 眉毛形态异常 HP:0000534
- 睫毛形态异常 HP:0000499
- 指（趾）甲形态异常 HP:0001597
- 腋毛异常 HP:0100134
- 牙列异常 HP:0000164
- 阴毛异常 HP:0100133
- 面部毛发缺失 HP:0002550
- 泛发性少毛症 HP:0004528
- 少汗/多汗症 HP:0007550
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）