{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T06:04:39Z","timestamp":1778565879680,"version":"3.51.4"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2014,2,16]]},"abstract":"<jats:p>Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis associated with poor survival. We report, with photographic record, a male baby born with HI. To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7\u2005years. The baby was born at 37\u2005weeks of gestation from consanguineous parents with no inherited skin disorder in the family. The mother was 28\u2005years old with three normal previous pregnancies and healthy babies. At birth, the baby's skin had thick scales separated by deep fissuring. He was managed in intensive care with supportive treatment and frequent application of lubricants, emollients and urea cream. The skin gradually became softened, and began to shed after 6\u2005weeks. After 8\u2005months of inpatient management, he was discharged. He is currently 7\u2005years old and is still being treated for non-bullous congenital ichthyosiform erythroderma.<\/jats:p>","DOI":"10.1136\/bcr-2013-200884","type":"journal-article","created":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T20:09:24Z","timestamp":1434658164000},"page":"bcr2013200884","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Harlequin ichthyosis: a case report of prolonged survival"],"prefix":"10.1136","volume":"2014","author":[{"given":"Anwar A","family":"Mithwani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asif","family":"Hashmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahid","family":"Shahnawaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasser","family":"Al Ghamdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2014,3,7]]},"reference":[{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1998.tb01699.x"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2003.01295.x"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2006.02042.x"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-3083.2002.00477.x"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.5","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.144.3.351"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.6","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/uog.6197","article-title":"Prenatal exclusion of harlequin ichthyosis with 3D ultrasound","volume":"32","author":"Alnemer","year":"2008","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.7","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12371764"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.8","first-page":"79","article-title":"Updated molecular genetics and pathogenesis of ichthyosis","volume":"73","author":"Akiyama","year":"2011","journal-title":"Nagoya J Med Sci"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.9","unstructured":"Online database: http:\/\/www.derm-hokudai.jp\/ABCA12\/ (accessed 13 Jul 2013)."},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.10","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1002\/humu.21326","article-title":"ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype\/phenotype correlations and of pathogenetic concepts","volume":"10","author":"Akiyama","year":"2010","journal-title":"Hum Mutat"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.11","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.9"},{"key":"2025042702501666000_2014.mar07_1.bcr2013200884.12","doi-asserted-by":"publisher","DOI":"10.1007\/BF02752311"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-200884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T09:50:23Z","timestamp":1745747423000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-200884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,7]]},"references-count":12,"alternative-id":["10.1136\/bcr-2013-200884"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-200884","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,7]]}}}