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应对诊断不确定性:前额纤维性秃发与面部萎缩性毛发角化病的基因检测见解

Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights.

作者信息

Desai Deesha D, Nohria Ambika, Shapiro Jerry, Lo Sicco Kristen I

机构信息

Department of Dermatology, University of Pittsburgh School of Medicine, Pittsburgh, USA.

Ronald O. Perelman Department of Dermatology, New York University (NYU) Grossman School of Medicine, New York, USA.

出版信息

Cureus. 2024 Apr 23;16(4):e58830. doi: 10.7759/cureus.58830. eCollection 2024 Apr.

Abstract

Keratosis pilaris atrophicans faciei (KPAF) and frontal fibrosing alopecia (FFA) present diagnostic challenges due to their similar clinical characteristics. Dermatologists often employ overlapping treatment regimens, which may hinder accurate diagnosis and treatment expectations. Genetic testing offers promise for precise diagnosis and tailored treatment strategies, yet its utility in these conditions remains underexplored. This manuscript presents a unique case study of a 36-year-old male with symptoms of both KPAF and FFA, who underwent genetic testing. Despite testing negative for this mutation, the case underscores the potential of genetic testing to enhance diagnostic accuracy and optimize treatment outcomes.

摘要

面部萎缩性毛发角化病(KPAF)和额部纤维性秃发(FFA)因其相似的临床特征而带来诊断挑战。皮肤科医生常常采用重叠的治疗方案,这可能会妨碍准确的诊断和治疗预期。基因检测有望实现精准诊断和量身定制的治疗策略,但其在这些病症中的效用仍未得到充分探索。本文献呈现了一个独特的病例研究,一名36岁男性同时出现KPAF和FFA的症状,他接受了基因检测。尽管该突变检测呈阴性,但该病例强调了基因检测在提高诊断准确性和优化治疗结果方面的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bef9/11114203/6b8ed8b18ff7/cureus-0016-00000058830-i01.jpg

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