{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:00:42Z","timestamp":1753891242048,"version":"3.41.2"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T00:00:00Z","timestamp":1716163200000},"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:p>Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia due to pathogenic variants of <jats:italic>SLC39A4<\/jats:italic>. Herein, we present a case series describing four unrelated patients with AE from Han, Yi, and Tibetan ethnicities in Sichuan region of southwestern China, speculate the hotspot variants of <jats:italic>SLC39A4<\/jats:italic> causing AE in Sichuan region and highlight physicians should be alerted to unusual presentations of AE, such as the absence of hypozincaemia and the presence of acne-like lesions. Serum alkaline phosphatase and genetic testing should be considered to accurately evaluate the zinc deficiency in human body and help make the correct diagnosis.<\/jats:p>","DOI":"10.3389\/fmed.2024.1399511","type":"journal-article","created":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T04:31:52Z","timestamp":1716179512000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Variants of SLC39A4 cause acrodermatitis enteropathica in Tibetan, Yi, and Han families in Sichuan region of southwestern China: a case report series"],"prefix":"10.3389","volume":"11","author":[{"given":"Zhongtao","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,5,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1111\/j.1365-2133.2008.08777.x","article-title":"A novel SLC39A4 gene mutation in the family of an acrodermatitis enteropathica patient with an unusual presentation","volume":"159","author":"Wang","year":"2008","journal-title":"Br J Dermatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1111\/ijd.12442","article-title":"One recurrent homozygous mutation of SLC39A4 in a girl with acrodermatitis enteropathica from southwestern China","volume":"55","author":"Zhou","year":"2016","journal-title":"Int J 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for 10 years in a girl aged 11 years","volume":"24","author":"Li","year":"2022","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"972030","DOI":"10.3389\/fped.2022.972030","article-title":"Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation","volume":"10","author":"Hua","year":"2022","journal-title":"Front Pediatr"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"13030","DOI":"10.5070\/D3214026272","article-title":"Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature","volume":"21","author":"Iyengar","year":"2015","journal-title":"Dermatol Online J"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"314","DOI":"10.4103\/ijd.IJD_112_17","article-title":"A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma","volume":"67","author":"Behera","year":"2022","journal-title":"Indian J Dermatol"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1399511\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T04:31:59Z","timestamp":1716179519000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1399511\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,20]]},"references-count":12,"alternative-id":["10.3389\/fmed.2024.1399511"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2024.1399511","relation":{},"ISSN":["2296-858X"],"issn-type":[{"type":"electronic","value":"2296-858X"}],"subject":[],"published":{"date-parts":[[2024,5,20]]},"article-number":"1399511"}}