{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T11:21:03Z","timestamp":1771932063879,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,12,23]],"date-time":"2016-12-23T00:00:00Z","timestamp":1482451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["15K19670"],"award-info":[{"award-number":["15K19670"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">DDEB<\/jats:styled-content>) harboring the p.G2251E mutation of <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic>. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of blistering and subsequently developed generalized intractable blisters, suggesting that multiple milia could be a primary manifestation of <jats:styled-content style=\"fixed-case\">DDEB<\/jats:styled-content>. Her mother exhibited nail dystrophy and pruritic nodules and her elder sister was unaffected, despite having the same <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> mutation. Inter\u2010 and intrafamilial clinical variability are often observed in <jats:styled-content style=\"fixed-case\">DDEB<\/jats:styled-content>, so we should be aware of this factor to provide appropriate genetic counselling.<\/jats:p>","DOI":"10.1111\/pde.13047","type":"journal-article","created":{"date-parts":[[2016,12,24]],"date-time":"2016-12-24T21:09:22Z","timestamp":1482613762000},"source":"Crossref","is-referenced-by-count":3,"title":["Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability"],"prefix":"10.1111","volume":"34","author":[{"given":"Eijiro","family":"Akaksa","sequence":"first","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuriko","family":"Takagi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Toyomaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,12,23]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2010.00953.x"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2011.01392.x"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00394.x"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2006.10.017"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13047","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13047","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T21:31:11Z","timestamp":1696023071000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13047"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,23]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/pde.13047"],"URL":"https:\/\/doi.org\/10.1111\/pde.13047","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,23]]}}}