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作为Birt-Hogg-Dubé综合征的初始表现的状血管炎和全身症状:一个病例报告
Olawale Babalola1, Dre Steinwehr1, Venkatkiran Kanchustambham1
1University of North Dakota School of Medicine and Health Sciences, Fargo, ND, USA.
SAGE open medical case reports
|May 28, 2024
概括
伯特-霍格-杜贝综合征是一种罕见的遗传疾病. 全基因组测序确定了毛囊素基因中的病原体变异,证实了患有广泛皮疹和全身症状的患者的诊断.
科学领域:
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
- 在瘤学瘤学.
背景情况:
- 伯特-霍格-杜贝综合征 (BHDS) 是一种自体主导遗传性疾病.
- 它的特征是纤维卵泡瘤,肺囊,复发性肺胸瘤和瘤.
- 早期诊断对于管理相关风险至关重要.
研究的目的:
- 报告一个独特的Birt-Hogg-Dubé综合征病例呈现.
- 突出非典型呈现的诊断挑战.
- 强调全基因组测序在罕见遗传疾病中的有用性.
主要方法:
- 一个56岁的女性的临床病例介绍.
- 对患者的病史进行审查,包括前庭神经瘤和癌.
- 皮肤学检查与穿孔活检和组织病理学分析.
- 综合实验室检测,包括自身免疫和周期性发烧面板.
- 全基因组测序用于遗传变异识别.
主要成果:
- 该患者在6个月的病史中出现了广泛的,红血性,起的皮疹,伴随着发烧,寒和肌痛.
- 穿孔活检显示了疹组织与白细胞结合反应,直接免疫光是负的.
- 针对自身免疫和周期性发烧综合征的初始实验室测试没有显著的结果.
- 全基因组测序检测出了毛囊素基因 (FLCN) 中的一种致病变体.
结论:
- 这一案例强调了比尔特-霍格-杜贝综合征可以表现为非典型的皮肤病症状.
- 通过基因检测证实了诊断,尽管在呈现时缺乏经典的BHDS特征.
- 全基因组测序是诊断罕见遗传疾病的宝贵工具,具有多种临床表现.
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