乳头状汗管囊腺瘤
Syringocystadenoma papilliferum
ORPHA:840疾病
定义 英文原文（暂无中文）
A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.
别名
痣合并乳头状汗管囊腺瘤
基本事实
- 遗传方式
- 未知
- 发病年龄
- 青少年期、儿童期、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 |
|---|---|---|
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Disease-causing somatic mutation(s) in |
临床表型 5
极常见 99–80%3
- 丘疹 HP:0200034
- 脱发 HP:0002209
- 皮下结节 HP:0001482
常见 79–30%1
- 皮肤的异常起疱 HP:0008066
偶见 29–5%1
- 皮脂腺痣 HP:0010815
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）