羊毛状发痣
Woolly hair nevus
ORPHA:79414疾病
定义 英文原文（暂无中文）
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
别名
羊毛状发痣
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HRAS | HRas proto-oncogene, GTPase | Disease-causing somatic mutation(s) in |
临床表型 12
极常见 99–80%4
- 卷曲样发 HP:0002212
- 绒毛 HP:0002213
- 斑片状毛发色素减退 HP:0011365
- 羊毛状发 HP:0040149
常见 79–30%2
- 先天性枕后脱发 HP:0007534
- 疣状表皮痣 HP:0034275
偶见 29–5%5
- 短指（趾） HP:0001156
- 前庭导水管扩大 HP:0011387
- 虹膜异色 HP:0001100
- 瞳孔膜存留 HP:0009917
- 切牙间隙过宽 HP:0006304
罕见 <4–1%1
- 性早熟 HP:0000826
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）