延迟皮肤表现的布劳综合征:一个病例报告
Elnaz Panah1, Erin Garfield2, Zisansha Zahirsha2
1Department of Pathology, Loyola University Medical Center, Maywood, IL; and.
The American Journal of dermatopathology
|April 22, 2024
概括
布劳综合征是一种罕见的自身炎症性疾病,是由NOD2突变引起的. 这一案例突出了其被误诊为青少年无形性关节炎的错误诊断,强调了基因检测的必要性.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 皮肤病学 皮肤病学
背景情况:
- 布劳综合征是一种罕见的自身炎症性疾病,具有自体主导遗传.
- 它表现为颗粒性皮肤炎,多关节炎和脑膜炎,通常被误诊为青少年异常性关节炎.
- 核酸结合寡合化域2 (NOD2) 的功能获取突变与布劳综合征的发病有关.
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