遗传性肢端角化性皮肤异色症
Hereditary acrokeratotic poikiloderma
ORPHA:2907疾病
定义 英文原文（暂无中文）
A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.
别名
Weary综合征
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 47
极常见 99–80%16
- 皮肤的异常起疱 HP:0008066
- 指甲营养不良 HP:0008391
- 趾甲营养不良 HP:0001810
- 湿疹样皮炎 HP:0000964
- 红斑 HP:0010783
- 牙龈炎 HP:0000230
- 皮肤色素减退斑 HP:0001053
- 鱼鳞病 HP:0008064
- 不规则色素沉着 HP:0007400
- 甲营养不良 HP:0008404
- 丘疹 HP:0200034
- 乳牙过早脱落 HP:0006323
- 脓疱 HP:0200039
- 皮肤毛细血管扩张 HP:0100585
- 皮肤变薄 HP:0000963
- 荨麻疹 HP:0001025
常见 79–30%12
- 口腔粘膜色素沉着异常 HP:0100669
- 颅骨形态异常 HP:0000929
- 牙列异常 HP:0000164
- 包皮形态异常 HP:0100587
- 舌系带短缩 HP:0010296
- 牙龈出血 HP:0000225
- 小口畸形 HP:0000160
- 口腔白斑 HP:0002745
- 掌跖角化 HP:0000972
- 皮肤溃疡 HP:0200042
- 尖头畸形 HP:0000262
- 口腔干燥 HP:0000217
偶见 29–5%19
- 掌骨形态异常 HP:0005916
- 肾小管形态异常 HP:0000091
- 肋骨形态异常 HP:0000772
- 胃肠道异常 HP:0011024
- 髋骨形态异常 HP:0003272
- 骨骼系统异常 HP:0000924
- 尿道异常 HP:0000795
- 手指弯曲 HP:0100490
- 睑外翻 HP:0000656
- 手指并指 HP:0006101
- 听力受损 HP:0000365
- 关节过度活动 HP:0001382
- 角膜结膜炎 HP:0001096
- 角膜基质的混浊 HP:0007759
- 开牙合 HP:0010807
- 身材矮小 HP:0004322
- 鳞状细胞癌 HP:0002860
- 膀胱移行细胞癌 HP:0006740
- 张口受限 HP:0000211
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）