线状疣状痣综合征
Linear verrucous nevus syndrome
ORPHA:2611疾病
定义 英文原文（暂无中文）
A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.
别名
线状疣状痣综合征
基本事实
- 发病年龄
- 新生儿期
临床表型 27
极常见 99–80%6
- 星形细胞瘤 HP:0009592
- 角化过度 HP:0000962
- 巨头畸形 HP:0000256
- 中枢神经系统的肿瘤 HP:0100006
- 脱发 HP:0002209
- 疣状丘疹 HP:0012500
常见 79–30%2
- 智能衰退 HP:0001268
- 癫痫发作 HP:0001250
偶见 29–5%19
- 角膜形态异常 HP:0000481
- 颅骨形态异常 HP:0000929
- 肾脏异常 HP:0000077
- 胼胝体发育缺陷/发育不全 HP:0007370
- 黄斑中心凹发育缺陷/不全 HP:0008060
- 白内障 HP:0000518
- 第四脑室孔闭塞综合征（Dandy-Walker畸形） HP:0001305
- 膝反屈 HP:0002816
- 低磷血症 HP:0002148
- 虹膜缺损 HP:0000612
- 骨密度降低 HP:0004349
- 视网膜病变 HP:0000488
- 脊柱侧弯 HP:0002650
- 掌骨短 HP:0010049
- 骨骼发育不良 HP:0002652
- 斜视 HP:0000486
- 畸形足 HP:0001883
- 并趾 HP:0001770
- 巨脑室 HP:0002119
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）