{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:51:28Z","timestamp":1747187488875,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T00:00:00Z","timestamp":1594684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Peking University Shenzhen Hospital","award":["JCYJ2018011"],"award-info":[{"award-number":["JCYJ2018011"]}]},{"name":"Shenzhen Sanming Project","award":["SZSM201812059"],"award-info":[{"award-number":["SZSM201812059"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (<jats:italic>KRT6A, KRT6B, KRT6C, KRT16,<\/jats:italic> or <jats:italic>KRT17<\/jats:italic>). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and identified a recurrent heterozygous missense mutation c.1406T\u00a0&gt;\u00a0C (p.Leu469Pro) in <jats:italic>KRT6A<\/jats:italic>. This suggests that bullae may represent an important feature of <jats:italic>KRT6A\u2010<\/jats:italic>related PC.<\/jats:p>","DOI":"10.1111\/pde.14285","type":"journal-article","created":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T08:50:10Z","timestamp":1594716610000},"page":"974-976","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Generalized bullae in a young girl with <i>KRT6A<\/i>\u2010related pachyonychia congenita"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6420-5177","authenticated-orcid":false,"given":"Jie","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Dermatology Skin Research Institute of Peking University Shenzhen Hospital Peking University Shenzhen Hospital Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6701-3290","authenticated-orcid":false,"given":"Weilong","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Dermatology Skin Research Institute of Peking University Shenzhen Hospital Peking University Shenzhen Hospital Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5579-6806","authenticated-orcid":false,"given":"Bo","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Skin Research Institute of Peking University Shenzhen Hospital Peking University Shenzhen Hospital Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9323-2035","authenticated-orcid":false,"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Key Laboratory of Molecular Diagnosis on Dermatoses National Clinical Research Center for Skin and Immune Diseases Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1440-3201","authenticated-orcid":false,"given":"Yalei","family":"Zheng","sequence":"additional","affiliation":[{"name":"Stomatological Center of Peking University Shenzhen Hospital Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5532-979X","authenticated-orcid":false,"given":"Xiaoping","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Skin Research Institute of Peking University Shenzhen Hospital Peking University Shenzhen Hospital Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,14]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18033"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.20"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12841"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1087-0024.2005.10204.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2006.01930.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.14285","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14285","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14285","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14285","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T12:22:19Z","timestamp":1693916539000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,14]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/pde.14285"],"URL":"https:\/\/doi.org\/10.1111\/pde.14285","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2020,7,14]]},"assertion":[{"value":"2020-07-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}