Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-11 DOI:10.1111/pde.15736

Aysha Najeeb, Vishal Gaurav, Pankhuri Dudani, Shukla Das, Somesh Gupta

引用次数: 0

Abstract

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent infections with Candida spp., often linked to primary immunodeficiencies. We report a case of two 8‐year‐old monozygotic twin brothers presenting with extensive dermatophytosis, later diagnosed with autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) syndrome due to a homozygous p.M1V mutation in the AIRE gene. The twins exhibited widespread skin and nail infection, along with malabsorption, dental caries, and other autoimmune manifestations. This case highlights the novel presentation of extensive dermatophytosis in APECED, underscoring the variability in clinical expression even within a single family.

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患有 APECED 综合征的孪生兄弟中的难治性大面积皮癣病

慢性皮肤粘膜念珠菌病（CMC）的特点是反复感染念珠菌属，通常与原发性免疫缺陷有关。我们报告了一例 8 岁单卵双胞胎兄弟的病例，他们患有广泛的皮肤癣菌病，后被诊断为自身免疫性多内分泌病、念珠菌病和外胚层营养不良（APECED）综合征，其病因是 AIRE 基因的同源突变 p.M1V。这对双胞胎表现出广泛的皮肤和指甲感染，同时伴有吸收不良、龋齿和其他自身免疫表现。该病例突显了 APECED 中广泛的皮癣病的新表现形式，强调了即使在一个家族中，临床表现也是多变的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.