{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:19:40Z","timestamp":1787840380416,"version":"build-2784847793"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T00:00:00Z","timestamp":1755561600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Plectinopathies, the spectrum of diseases caused by plectin gene (\n                    <jats:italic toggle=\"yes\">PLEC<\/jats:italic>\n                    ) mutations, have a wide range of manifestations, mostly extracutaneous, like pyloric atresia, muscular dystrophy, and cardiomyopathy, along with cutaneous tense blistering. Differently spliced exons give rise to various isoforms, which have definitive functions in different cell types and tissues. We report a case of a 14-year-old girl presenting with features of tense pruritic vesicles and bullae on extremities and trunk since childhood. She was diagnosed with intermediate epidermolysis bullosa simplex, having nonsense\n                    <jats:italic toggle=\"yes\">PLEC<\/jats:italic>\n                    mutation at exon 1. The uniqueness of the case is the absence of extracutaneous manifestations and her dramatic response to dapsone.\n                  <\/jats:p>","DOI":"10.4103\/idoj.idoj_1064_24","type":"journal-article","created":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T06:00:10Z","timestamp":1755669610000},"page":"782-784","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Plectin (PLEC)-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response to Dapsone"],"prefix":"10.4103","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9709-8504","authenticated-orcid":false,"given":"Anisha","family":"Biswal","sequence":"first","affiliation":[{"name":"Department of Dermatology, Institute of Medical Science and SUM Hospital, Kalinga Nagar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1504-1799","authenticated-orcid":false,"given":"Bikash Ranjan","family":"Kar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Institute of Medical Science and SUM Hospital, Kalinga Nagar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4320-3193","authenticated-orcid":false,"given":"Rahul","family":"Mahajan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2658-3844","authenticated-orcid":false,"given":"Liza","family":"Mohapatra","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Institute of Medical Science and SUM Hospital, Kalinga Nagar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anoop","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,8,19]]},"reference":[{"key":"R1-20250830","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility","volume":"183","author":"Has","year":"2020","journal-title":"Br J Dermatol"},{"key":"R2-20250830","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1002\/ajmg.a.62781","article-title":"Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India","volume":"188","author":"Vishwanathan","year":"2022","journal-title":"Am J Med Genet A"},{"key":"R3-20250830","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.3390\/jcm12031139","article-title":"Epidermolysis bullosa acquisita\u2014current and emerging treatments","volume":"12","author":"Te\u0161anovi\u0107Perkovi\u0107","year":"2023","journal-title":"J Clin Med"},{"key":"R4-20250830","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1111\/bjd.12202","article-title":"Epidermolysis bullosa simplex with PLEC mutations:new phenotypes and new mutations","volume":"168","author":"Charlesworth","year":"2013","journal-title":"Br J Dermatol"},{"key":"R5-20250830","doi-asserted-by":"crossref","first-page":"3155","DOI":"10.1093\/hmg\/ddv066","article-title":"Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex","volume":"24","author":"Gosty\u0144ska","year":"2015","journal-title":"Hum Mol Genet"}],"container-title":["Indian Dermatology Online Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/idoj.idoj_1064_24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:21:43Z","timestamp":1787836903000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/idoj.idoj_1064_24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,19]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/idoj.idoj_1064_24","relation":{},"ISSN":["2229-5178","2249-5673"],"issn-type":[{"value":"2229-5178","type":"print"},{"value":"2249-5673","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,19]]},"assertion":[{"value":"2024-10-21","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-01","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}