{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:20:33Z","timestamp":1791325233102,"version":"4.3.1"},"reference-count":5,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82504276"],"award-info":[{"award-number":["82504276"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81730085"],"award-info":[{"award-number":["81730085"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82273514"],"award-info":[{"award-number":["82273514"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82304001"],"award-info":[{"award-number":["82304001"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82504269"],"award-info":[{"award-number":["82504269"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Post Doctoral Science Foundation","doi-asserted-by":"publisher","award":["2025M782154"],"award-info":[{"award-number":["2025M782154"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>To our knowledge, this report describes the first documented case of PLEC-nEDD (formerly epidermolysis bullosa simplex-Ogna) in a Chinese patient. The case was characterized by an unusually late onset in the fourth decade of life and generalized skin lesions. Whole-exome sequencing identified the canonical PLEC c.5917C&amp;gt;T (p.Arg1973Trp) mutation, confirmed by Sanger sequencing, with immunofluorescence mapping revealing discontinuous plectin expression along the dermoepidermal junction. This case expands the phenotypic spectrum of PLEC-nEDD and underscores the importance of considering genetic testing in adults presenting with unexplained blistering disorders, even in the absence of family history.<\/jats:p>","DOI":"10.1093\/ced\/llag171","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T11:51:37Z","timestamp":1776858697000},"source":"Crossref","is-referenced-by-count":1,"title":["Late-onset\n                    <i>PLEC<\/i>\n                    -nEDD (epidermolysis bullosa simplex-Ogna) in a Chinese patient"],"prefix":"10.1093","author":[{"given":"Chuqiao","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiting","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenqing","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqing","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiqin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"key":"2026061007161719600_llag171-B1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1046\/j.0022-202x.2001.01591.x","article-title":"A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations","volume":"118","author":"Koss-Harnes","year":"2002","journal-title":"J Invest Dermatol"},{"key":"2026061007161719600_llag171-B2","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/jid.2012.248","article-title":"Epidermolysis bullosa simplex Ogna revisited","volume":"133","author":"Kiritsi","year":"2013","journal-title":"J Invest Dermatol"},{"key":"2026061007161719600_llag171-B3","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/jid.2013.277","article-title":"Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients","volume":"134","author":"Bolling","year":"2014","journal-title":"J Invest Dermatol"},{"key":"2026061007161719600_llag171-B4","doi-asserted-by":"crossref","first-page":"e177","DOI":"10.1111\/1346-8138.16705","article-title":"A case of epidermolysis bullosa simplex-Ogna with nail involvement","volume":"50","author":"Takei","year":"2023","journal-title":"J Dermatol"},{"key":"2026061007161719600_llag171-B5","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s40265-026-02285-2","article-title":"Developing CRISPR-based therapies for epidermolysis bullosa: a comprehensive review of current strategies","volume":"86","author":"du Rand","year":"2026","journal-title":"Drugs"}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ced\/advance-article-pdf\/doi\/10.1093\/ced\/llag171\/68148115\/llag171.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/advance-article-pdf\/doi\/10.1093\/ced\/llag171\/68148115\/llag171.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T11:16:26Z","timestamp":1781090186000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/advance-article\/doi\/10.1093\/ced\/llag171\/8661789"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,24]]},"references-count":5,"URL":"https:\/\/doi.org\/10.1093\/ced\/llag171","relation":{},"ISSN":["0307-6938","1365-2230"],"issn-type":[{"value":"0307-6938","type":"print"},{"value":"1365-2230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,24]]},"article-number":"llag171"}}