家族性雪白狼疮
Familial Chilblain lupus
ORPHA:481662疾病
定义 英文原文（暂无中文）
A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TREX1 | three prime repair exonuclease 1 | Disease-causing germline mutation(s) (loss of function) in |
| SAMHD1 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Disease-causing germline mutation(s) (loss of function) in |
| STING1 | stimulator of interferon response cGAMP interactor 1 | Disease-causing germline mutation(s) (gain of function) in |
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）