脱屑性红皮病
Erythroderma desquamativum
ORPHA:314疾病
定义 英文原文（暂无中文）
A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.
别名
脱屑性红皮病
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- 6-9 / 10 000（United States）
临床表型 4
极常见 99–80%4
- 免疫系统功能异常 HP:0010978
- 腹泻 HP:0002014
- 发育迟滞 HP:0001508
- 脂溢性皮炎 HP:0001051
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）