{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T19:01:33Z","timestamp":1778180493145,"version":"3.51.4"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,12,12]]},"abstract":"<jats:p>Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid therapy. Mutations in <jats:italic>ABCA12<\/jats:italic> have been found to lead to HI. Most of these mutations are truncation or deletion mutations in the conserved region of the protein, leading to severe loss of <jats:italic>ABCA12<\/jats:italic> function. We report a case of HI caused by a compound heterozygous mutation (a known single nucleotide deletion and a novel single nucleotide substitution) in the <jats:italic>ABCA12<\/jats:italic> gene.<\/jats:p>","DOI":"10.1136\/bcr-2017-222025","type":"journal-article","created":{"date-parts":[[2018,1,3]],"date-time":"2018-01-03T05:00:50Z","timestamp":1514955650000},"page":"bcr-2017-222025","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Compound heterozygous mutations with novel missense <i>ABCA12<\/i> mutation in harlequin ichthyosis"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6385-8520","authenticated-orcid":false,"given":"Benny Kai Guo","family":"Loo","sequence":"first","affiliation":[{"name":"Department of Paediatric Medicine, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa Jeanne","family":"Batilando","sequence":"additional","affiliation":[{"name":"Department of Neonatology, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ene Choo","family":"Tan","sequence":"additional","affiliation":[{"name":"KK Research Centre, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark Jean Aan","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,1,3]]},"reference":[{"key":"2025082723533470000_2018.jan03_1.bcr-2017-222025.1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1891\/0730-0832.24.3.17","article-title":"A review of harlequin ichthyosis","volume":"24","author":"Layton","year":"2005","journal-title":"Neonatal Netw"},{"key":"2025082723533470000_2018.jan03_1.bcr-2017-222025.2","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1111\/ped.12638","article-title":"Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan","volume":"57","author":"Shibata","year":"2015","journal-title":"Pediatr Int"},{"key":"2025082723533470000_2018.jan03_1.bcr-2017-222025.3","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.9"},{"key":"2025082723533470000_2018.jan03_1.bcr-2017-222025.4","doi-asserted-by":"crossref","first-page":"926","DOI":"10.3923\/jms.2007.926.928","article-title":"Harlequin baby (A case report)","volume":"7","author":"Golalipour","year":"2007","journal-title":"Journal of Medical Sciences"},{"key":"2025082723533470000_2018.jan03_1.bcr-2017-222025.5","doi-asserted-by":"crossref","first-page":"321","DOI":"10.7241\/ourd.20124.70","article-title":"Expecting the most unexpected \u2013 a harlequin baby! 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