小儿复发性肠病性肢端皮炎:缺锌和并发症的罕见病例报告。

IF 0.9 Q4 DERMATOLOGY
Case Reports in Dermatology Pub Date : 2025-05-08 eCollection Date: 2025-01-01 DOI:10.1159/000544874
Abdul Hanan, Atiq Ul Rehman, Fnu Abdullah, Amna Anwar, Muhammad Umar, Saba Shafiq, Abdur Rehman, Javed Iqbal
{"title":"小儿复发性肠病性肢端皮炎:缺锌和并发症的罕见病例报告。","authors":"Abdul Hanan, Atiq Ul Rehman, Fnu Abdullah, Amna Anwar, Muhammad Umar, Saba Shafiq, Abdur Rehman, Javed Iqbal","doi":"10.1159/000544874","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Acrodermatitis enteropathica (AE) is a rare genetic disorder that results in impaired zinc absorption due to a mutation in the SLC39A4 gene, leading to systemic zinc deficiency with characteristic dermatologic, immunologic, and gastrointestinal manifestations.</p><p><strong>Case presentation: </strong>This case report presents a 6-year-old boy with recurrent AE, exhibiting widespread vesiculopustular lesions, alopecia, chronic diarrhea, and poor growth, symptoms typical of zinc deficiency syndromes. Initial diagnosis was supported by low serum zinc levels, elevated C-reactive protein, and IgE, indicating an inflammatory process. Despite the absence of genetic confirmation, the clinical and laboratory findings were consistent with AE. Treatment with oral zinc supplementation resulted in rapid symptomatic improvement, underscoring the essential role of zinc in skin integrity and immune function.</p><p><strong>Conclusion: </strong>This case highlights AE's diagnostic challenges, especially in resource-limited settings lacking access to genetic testing, and the critical need for long-term zinc monitoring to manage recurrent symptoms and prevent toxicity. AE's rare incidence and overlapping symptoms with other dermatologic and metabolic disorders necessitate a high degree of clinical suspicion, emphasizing the importance of zinc in pediatric growth and immune health. This report contributes valuable insights for managing recurrent AE presentations, particularly in contexts with limited diagnostic resources.</p>","PeriodicalId":9619,"journal":{"name":"Case Reports in Dermatology","volume":"17 1","pages":"255-262"},"PeriodicalIF":0.9000,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12233994/pdf/","citationCount":"0","resultStr":"{\"title\":\"Recurrent Acrodermatitis Enteropathica in a Pediatric Patient: A Rare Case Report with Zinc Deficiency and Complications.\",\"authors\":\"Abdul Hanan, Atiq Ul Rehman, Fnu Abdullah, Amna Anwar, Muhammad Umar, Saba Shafiq, Abdur Rehman, Javed Iqbal\",\"doi\":\"10.1159/000544874\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Acrodermatitis enteropathica (AE) is a rare genetic disorder that results in impaired zinc absorption due to a mutation in the SLC39A4 gene, leading to systemic zinc deficiency with characteristic dermatologic, immunologic, and gastrointestinal manifestations.</p><p><strong>Case presentation: </strong>This case report presents a 6-year-old boy with recurrent AE, exhibiting widespread vesiculopustular lesions, alopecia, chronic diarrhea, and poor growth, symptoms typical of zinc deficiency syndromes. Initial diagnosis was supported by low serum zinc levels, elevated C-reactive protein, and IgE, indicating an inflammatory process. Despite the absence of genetic confirmation, the clinical and laboratory findings were consistent with AE. Treatment with oral zinc supplementation resulted in rapid symptomatic improvement, underscoring the essential role of zinc in skin integrity and immune function.</p><p><strong>Conclusion: </strong>This case highlights AE's diagnostic challenges, especially in resource-limited settings lacking access to genetic testing, and the critical need for long-term zinc monitoring to manage recurrent symptoms and prevent toxicity. AE's rare incidence and overlapping symptoms with other dermatologic and metabolic disorders necessitate a high degree of clinical suspicion, emphasizing the importance of zinc in pediatric growth and immune health. This report contributes valuable insights for managing recurrent AE presentations, particularly in contexts with limited diagnostic resources.</p>\",\"PeriodicalId\":9619,\"journal\":{\"name\":\"Case Reports in Dermatology\",\"volume\":\"17 1\",\"pages\":\"255-262\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-05-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12233994/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Dermatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000544874\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Dermatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000544874","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

简介:肠病性肢端皮炎(AE)是一种罕见的遗传性疾病,由于SLC39A4基因突变导致锌吸收受损,导致全身性锌缺乏,具有特征性的皮肤、免疫和胃肠道表现。病例介绍:本病例报告提出一名6岁男孩复发性AE,表现为广泛的囊泡性病变、脱发、慢性腹泻和生长不良,症状为典型的缺锌综合征。初步诊断为低血清锌水平,c反应蛋白和IgE升高,表明炎症过程。尽管缺乏基因证实,临床和实验室结果与AE一致。口服补锌治疗导致症状迅速改善,强调锌在皮肤完整性和免疫功能中的重要作用。结论:该病例突出了AE的诊断挑战,特别是在资源有限的环境中缺乏基因检测,以及长期锌监测以控制复发症状和预防毒性的迫切需要。AE的罕见发病率和与其他皮肤和代谢疾病的重叠症状需要高度的临床怀疑,强调锌在儿童生长和免疫健康中的重要性。本报告为管理复发性AE表现提供了有价值的见解,特别是在诊断资源有限的情况下。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recurrent Acrodermatitis Enteropathica in a Pediatric Patient: A Rare Case Report with Zinc Deficiency and Complications.

Introduction: Acrodermatitis enteropathica (AE) is a rare genetic disorder that results in impaired zinc absorption due to a mutation in the SLC39A4 gene, leading to systemic zinc deficiency with characteristic dermatologic, immunologic, and gastrointestinal manifestations.

Case presentation: This case report presents a 6-year-old boy with recurrent AE, exhibiting widespread vesiculopustular lesions, alopecia, chronic diarrhea, and poor growth, symptoms typical of zinc deficiency syndromes. Initial diagnosis was supported by low serum zinc levels, elevated C-reactive protein, and IgE, indicating an inflammatory process. Despite the absence of genetic confirmation, the clinical and laboratory findings were consistent with AE. Treatment with oral zinc supplementation resulted in rapid symptomatic improvement, underscoring the essential role of zinc in skin integrity and immune function.

Conclusion: This case highlights AE's diagnostic challenges, especially in resource-limited settings lacking access to genetic testing, and the critical need for long-term zinc monitoring to manage recurrent symptoms and prevent toxicity. AE's rare incidence and overlapping symptoms with other dermatologic and metabolic disorders necessitate a high degree of clinical suspicion, emphasizing the importance of zinc in pediatric growth and immune health. This report contributes valuable insights for managing recurrent AE presentations, particularly in contexts with limited diagnostic resources.

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
CiteScore
1.60
自引率
0.00%
发文量
57
审稿时长
9 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信