{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T11:47:28Z","timestamp":1784634448537,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T00:00:00Z","timestamp":1720396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study underscores the significance of identifying the clinical manifestations of pachyonychia congenita (PC) and emphasizes the patterns of genetic inheritance. A 12\u2010month\u2010old boy presented with a \u201cwhite hairy tongue\u201d and, following a comprehensive evaluation, was diagnosed with PC. His father exhibited similar symptoms. Genetic testing revealed a <jats:italic>KRT16<\/jats:italic> pathogenic variant (c.616\u2009T\u2009&gt;\u2009G) in both the patient and his father, marking it as a novel variant in the PC literature. This case contributes to a broader understanding of PC's genetic diversity and its clinical presentations.<\/jats:p>","DOI":"10.1111\/pde.15701","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T05:37:50Z","timestamp":1720503470000},"page":"109-111","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pachyonychia congenita: A father and son with a novel variant in the <scp>KRT16<\/scp> gene"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1111-9659","authenticated-orcid":false,"given":"Tu Nguyen Anh","family":"Tran","sequence":"first","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3946-6820","authenticated-orcid":false,"given":"Thao Thi Phuong","family":"Vu","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2176-0941","authenticated-orcid":false,"given":"Nguyen Nhat","family":"Pham","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi\u2010Bao","family":"Bui","sequence":"additional","affiliation":[{"name":"School of Medicine, Vietnam National University  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7732-0497","authenticated-orcid":false,"given":"Hao Trong","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato\u2010Venereology  Ho Chi Minh City Vietnam"},{"name":"Pham Ngoc Thach University of Medicine  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18794"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S280160"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","unstructured":"Pachyonychia Congenita Project.PC data. Accessed August 24 2023.2023https:\/\/www.pachyonychia.org\/pc-data\/","DOI":"10.4103\/ijpd.ijpd_24_23"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2011.10745.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000513340"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14569"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2022.09.018"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15701","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T14:29:52Z","timestamp":1749133792000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,8]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/pde.15701"],"URL":"https:\/\/doi.org\/10.1111\/pde.15701","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,8]]},"assertion":[{"value":"2023-12-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}