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克服新型隐球菌引起的皮肤隐球菌病的诊断挑战:一项利用宏基因组下一代测序的病例研究

Overcoming the Diagnostic Challenges in Cutaneous Cryptococcosis Caused by Cryptococcus neoformans: A Case Study Utilizing Metagenomic Next-Generation Sequencing.

作者信息

Lu Liujun, Chen Yulin, Leng Minfang, He Shuquan, Liu Qunlan, Zou Songyun, Liu Yueming, Fan Feixiang

机构信息

Department of Dermatology, Shenzhen Longhua District Central Hospital, Shenzhen, Guangdong, China.

Department of Pathology, Shenzhen Longhua District Central Hospital, Shenzhen, Guangdong, China.

出版信息

Mycopathologia. 2025 Jul 16;190(4):64. doi: 10.1007/s11046-025-00973-3.

Abstract

Cryptococcosis, a rare deep fungal infection, primarily affects immunocompromised individuals and carries a high mortality risk when hematogenously disseminated to the central nervous system (CNS). Cutaneous cryptococcosis poses diagnostic challenges due to its diverse and nonspecific dermatological manifestations. Traditional diagnostic methods, including mycological examination, culture, and histopathology, are time-consuming and require specialized expertise, often leading to misdiagnosis. Metagenomic next-generation sequencing (mNGS), an advanced molecular tool, enables rapid and unbiased pathogen identification. Here, we present the first documented case of cutaneous cryptococcosis diagnosed via mNGS, demonstrating its pivotal role in guiding timely treatment despite negative initial conventional tests.

摘要

隐球菌病是一种罕见的深部真菌感染,主要影响免疫功能低下的个体,当通过血液传播至中枢神经系统(CNS)时具有很高的死亡风险。皮肤隐球菌病因其多样且非特异性的皮肤表现而带来诊断挑战。传统的诊断方法,包括真菌学检查、培养和组织病理学检查,耗时且需要专业知识,常常导致误诊。宏基因组下一代测序(mNGS)是一种先进的分子工具,能够快速且无偏倚地鉴定病原体。在此,我们报告首例通过mNGS诊断的皮肤隐球菌病病例,证明了尽管初始常规检查结果为阴性,但mNGS在指导及时治疗方面的关键作用。

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