巨大先天性黑色素细胞痣
Large/giant congenital melanocytic nevus
ORPHA:626疾病
定义 英文原文（暂无中文）
A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system.
别名
巨大先天性黑色素细胞痣
基本事实
- 遗传方式
- 多基因/多因素
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 7
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing somatic mutation(s) in |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Part of a fusion gene in |
| ZEB2 | zinc finger E-box binding homeobox 2 | Part of a fusion gene in |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | Part of a fusion gene in |
| ALK | ALK receptor tyrosine kinase | Part of a fusion gene in |
| NRAS | NRAS proto-oncogene, GTPase | Disease-causing somatic mutation(s) in |
| SOX5 | SRY-box transcription factor 5 | Part of a fusion gene in |
临床表型 21
极常见 99–80%3
- 皮肤着色异常 HP:0001000
- 先天性巨大型色素痣 HP:0005600
- 色素痣 HP:0003764
常见 79–30%3
- 无汗症 HP:0000970
- 干性皮肤 HP:0000958
- 伤口愈合不良 HP:0001058
偶见 29–5%12
- 非典型行为 HP:0000708
- 皮肤黑色素瘤 HP:0012056
- 头痛 HP:0002315
- 脑积水 HP:0000238
- 多毛症 HP:0000998
- 皮肤色素减退斑 HP:0001053
- 颅内压增高 HP:0002516
- 神经发育延迟 HP:0012758
- 瘙痒 HP:0000989
- 癫痫发作 HP:0001250
- 脊髓受压 HP:0002176
- 皮下结节 HP:0001482
罕见 <4–1%3
- 隐睾 HP:0000028
- 低磷性佝偻病 HP:0004912
- 乳房早熟 HP:0010314
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）