{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T00:32:42Z","timestamp":1759365162926,"version":"build-2065373602"},"reference-count":43,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Acrodermatitis enteropathy (AE) is a rare autosomal recessive disorder caused by mutations in the <jats:italic>SLC39A4<\/jats:italic> gene. It is characterized by acral and perioral dermatitis, alopecia, and diarrhea. We reported the clinical features, genetic findings, and treatment response of a minority ethnic infant with AE from Xinjiang, China, and reviewed advances in AE management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>A 10-month-old minority female infant presented with characteristic perioral, acral, and perianal erythematous erosions; alopecia; and diarrhea. Her serum zinc level significantly decreased (0.19 mg\/L). Whole-exome sequencing revealed a homozygous c.197G &amp;gt; T(p. C66F) mutation in the <jats:italic>SLC39A4<\/jats:italic> gene. Her skin lesions improved, her hair regrew, and her serum zinc level increased to 0.62 mg\/L following zinc supplementation (3 mg\/kg\/d) and comprehensive treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first case of AE in a Xinjiang minority infant and implicates <jats:italic>SLC39A4<\/jats:italic> mutations in its pathogenesis and zinc therapy efficacy. This case provides insights into the genetic and clinical features of AE across Chinese ethnic groups, emphasizing early genetic testing and individualized zinc therapy. Primary physicians should consider AEs in infants with characteristic dermatitis, alopecia, and diarrhea. The zinc levels should be measured promptly, and genetic analysis should be conducted to prevent misdiagnosis and treatment delays.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2025.1616196","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T05:52:05Z","timestamp":1759297925000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review"],"prefix":"10.3389","volume":"12","author":[{"given":"Tuerhongjiang","family":"Axirejiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulinigeer","family":"Simayi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abudushalamu","family":"Abuduwake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunxia","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irshat","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,10,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.jaad.2006.08.015","article-title":"Acrodermatitis enteropathica and an overview of zinc metabolism.","volume":"56","author":"Maverakis","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/ejhg.2011.227","article-title":"Clinical utility gene card for: acrodermatitis enteropathica.","volume":"20","author":"K\u00fcry","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"B3","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1152\/physrev.00035.2014","article-title":"The physiological, biochemical, and molecular roles of zinc transporters in zinc homeostasis and metabolism.","volume":"95","author":"Kambe","year":"2015","journal-title":"Physiol Rev"},{"key":"B4","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1002\/humu.20988","article-title":"An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.","volume":"30","author":"Schmitt","year":"2009","journal-title":"Hum Mutat"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1111\/j.1365-4632.2010.04566.x","article-title":"Acrodermatitis enteropathica: a review of 29 Tunisian cases.","volume":"49","author":"Kharfi","year":"2010","journal-title":"Int J Dermatol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1046\/j.1523-1747.2003.12243.x","article-title":"Novel SLC39A4 mutations in acrodermatitis enteropathica.","volume":"120","author":"Nakano","year":"2003","journal-title":"J Invest Dermatol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"572","DOI":"10.3390\/nu7010572","article-title":"The relevance of the colon to zinc nutrition.","volume":"7","author":"Gopalsamy","year":"2015","journal-title":"Nutrients"},{"key":"B8","doi-asserted-by":"publisher","first-page":"34","DOI":"10.19070\/2572-7354-1700011","article-title":"Acrodermatitis enteropathica: case report and review of the literature.","volume":"4","author":"Elmahi","year":"2017","journal-title":"Int. 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