Dowling-Degos病
Dowling-Degos disease
ORPHA:79145疾病
定义 英文原文（暂无中文）
A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.
别名
屈侧网状色素异常
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KRT5 | keratin 5 | Disease-causing germline mutation(s) (loss of function) in |
| PSENEN | presenilin enhancer, gamma-secretase subunit | Disease-causing germline mutation(s) in |
| POFUT1 | protein O-fucosyltransferase 1 | Disease-causing germline mutation(s) in |
| POGLUT1 | protein O-glucosyltransferase 1 | Disease-causing germline mutation(s) in |
临床表型 25
极常见 99–80%1
- 进行性网状色素沉着 HP:0007456
常见 79–30%3
- 颈部异常 HP:0000464
- 角化过度 HP:0000962
- 腹股沟雀斑 HP:0030052
偶见 29–5%12
- 指甲形态异常 HP:0001231
- 手异常 HP:0001155
- 化脓性汗腺炎 HP:0040154
- 手指凹陷性疤痕 HP:0031293
- 红色丘疹 HP:0030350
- 不耐热 HP:0002046
- 角化过度性丘疹 HP:0045059
- 色素沉着斑 HP:0001034
- 色素沉着性丘疹 HP:0025473
- 阴茎斑点 HP:0031447
- 瘙痒 HP:0000989
- 阴囊色素沉着 HP:0012855
罕见 <4–1%9
- 肛缘鳞状细胞癌 HP:0030442
- 关节炎 HP:0001369
- 表皮样囊肿 HP:0200040
- 泛发性皮肤异常 HP:0011354
- 低色素斑点 HP:0020073
- 角化棘皮瘤 HP:0031525
- 皮肤色素减退和色素沉着共存 HP:0009123
- 手掌点状隐窝 HP:0010610
- 表皮水疱 HP:0200037
外部标识与链接
OrphanetOMIM:179850OMIM:615327OMIM:615674MONDO:0008371GARD:9775ICD-10 L81.8ICD-11 EC23.0ClinicalTrials.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）