患有 APECED 综合征的孪生兄弟中的难治性大面积皮癣病

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2024-09-11 DOI:10.1111/pde.15736

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

{"title":"患有 APECED 综合征的孪生兄弟中的难治性大面积皮癣病","authors":"Aysha Najeeb, Vishal Gaurav, Pankhuri Dudani, Shukla Das, Somesh Gupta","doi":"10.1111/pde.15736","DOIUrl":null,"url":null,"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.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome\",\"authors\":\"Aysha Najeeb, Vishal Gaurav, Pankhuri Dudani, Shukla Das, Somesh Gupta\",\"doi\":\"10.1111/pde.15736\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":19819,\"journal\":{\"name\":\"Pediatric Dermatology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-09-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Dermatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/pde.15736\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/pde.15736","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

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。

查看原文本刊更多论文

Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.