{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T08:21:33Z","timestamp":1770538893447,"version":"3.49.0"},"reference-count":7,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,3,11]],"date-time":"2017-03-11T00:00:00Z","timestamp":1489190400000},"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":["26461668"],"award-info":[{"award-number":["26461668"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Harlequin ichthyosis (<jats:styled-content style=\"fixed-case\">HI<\/jats:styled-content>) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. Recent advances in neonatal care and the early administration of retinoids have improved the survival rate of <jats:styled-content style=\"fixed-case\">HI<\/jats:styled-content>. Here, we present a case of <jats:styled-content style=\"fixed-case\">HI<\/jats:styled-content> who was successfully treated with early administration of etretinate and showed good prognosis. Next\u2010generation sequencing identified novel mutations of the <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\u2010binding cassette subfamily A member 12 gene (<jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12<\/jats:italic>), c.5884+4_+5del<jats:styled-content style=\"fixed-case\">AA<\/jats:styled-content> and c.7239G&gt;A, which caused skipping of exons 39 and 48, respectively. Transcripts with exon 48 skipping, which cause a deletion in the second <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>\u2010binding cassette of <jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12, were dominantly expressed in the skin. Besides the early administration of etretinate, the differential expression of the mutant protein with limited segmental deletion of <jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12 may be related to the favorable outcome of our patient.<\/jats:p>","DOI":"10.1111\/1346-8138.13823","type":"journal-article","created":{"date-parts":[[2017,3,11]],"date-time":"2017-03-11T08:38:30Z","timestamp":1489221510000},"page":"950-953","source":"Crossref","is-referenced-by-count":13,"title":["Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the <scp>ATP<\/scp>\u2010binding cassette subfamily A member 12 gene"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2468-7535","authenticated-orcid":false,"given":"Ken","family":"Washio","sequence":"first","affiliation":[{"name":"Division of Dermatology Nishi\u2010Kobe Medical Center  Kobe Japan"},{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayuko","family":"Sumi","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaori","family":"Nakata","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Fukunaga","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiji","family":"Yamana","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsubasa","family":"Koda","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Morioka","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chikako","family":"Nishigori","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyofumi","family":"Yamanishi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12383"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.9"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12638"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI24834"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21326"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13090"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep06737"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.13823","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.13823","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T14:59:26Z","timestamp":1695481166000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.13823"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,11]]},"references-count":7,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1111\/1346-8138.13823"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.13823","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,11]]}}}