{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:27:14Z","timestamp":1788910034997,"version":"build-2803163510"},"reference-count":9,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,8,5]]},"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:p>A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly. Oral acitretin was initiated on day 3 of life, complemented by an intensive skin care regimen. Rehydration, prevention and treatment of infection, temperature control and nutritional support were all essential to see him through the neonatal period. Nearly 12 years later, this child continues to receive multidisciplinary input and enjoys a good quality of life.<\/jats:p>","DOI":"10.1136\/bcr-2020-235225","type":"journal-article","created":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T02:30:38Z","timestamp":1598495438000},"page":"e235225","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Harlequin ichthyosis from birth to 12 years"],"prefix":"10.1136","volume":"13","author":[{"given":"Jemima","family":"Heap","sequence":"first","affiliation":[{"name":"Pennine Acute Hospitals NHS Trust, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Judge","sequence":"additional","affiliation":[{"name":"Salford Royal NHS Foundation Trust, Salford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beena","family":"Padmakumar","sequence":"additional","affiliation":[{"name":"Paediatrics, Royal Oldham Hospital, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,8,26]]},"reference":[{"key":"2025082800521600000_13.8.e235225.1","unstructured":"Choate KA . Overview and classification of the inherited ichthyoses. Available: www.uptodate.com [Accessed 1 Oct 2019]."},{"key":"2025082800521600000_13.8.e235225.2","unstructured":"Craiglow B . Ichthyosis. Available: https:\/\/bestpractice.bmj.com\/topics\/en-gb\/584 [Accessed 01 Oct 2019]."},{"key":"2025082800521600000_13.8.e235225.3","doi-asserted-by":"crossref","unstructured":"Glick JB . Improved management of harlequin ichthyosis with advances in neonatal intensive care. Available: https:\/\/pediatrics.aappublications.org\/content\/139\/1\/e20161003 Accessed 01 Oct 2019].","DOI":"10.1542\/peds.2016-1003"},{"key":"2025082800521600000_13.8.e235225.4","unstructured":"Sitek JC . Osteopenia and multiple fractures in an infant with harlequin ichthyosis. Available: https:\/\/jamanetwork.com\/journals\/jamadermatology\/article-abstract\/2678684 [Accessed 01 Oct 2019]."},{"key":"2025082800521600000_13.8.e235225.5","unstructured":"Joint Formulary Committee . British National formulary (online) London: BMJ group and pharmaceutical press. Available: http:\/\/www.medicinescomplete.com [Accessed 01 Oct 2019]."},{"key":"2025082800521600000_13.8.e235225.6","unstructured":"Lawlor F , Peiris S . Harlequin fetus successfully treated with etretinate. British Journal of dermatology. 1985. Wikipedia. harlequin ichthyosis (online) [Accessed 19 Feb 2020]."},{"key":"2025082800521600000_13.8.e235225.7","unstructured":"Foundation for Ichthyosis and Related Skin Types . Woman with harlequin ichthyosis delivers a healthy baby boy. Available: http:\/\/www.firstskinfoundation.org\/woman-with-harlequin-ichthyosis-delivers-a-healthy-baby-boy [Accessed 01 Oct 2019]."},{"key":"2025082800521600000_13.8.e235225.8","doi-asserted-by":"crossref","unstructured":"Loo BKG . Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. Available: https:\/\/casereports.bmj.com\/content\/2018\/bcr-2017-222025.long [Accessed 01 Oct 2019].","DOI":"10.1136\/bcr-2017-222025"},{"key":"2025082800521600000_13.8.e235225.9","unstructured":"Washio K . Case of harlequin ichthyosis with a favorable outcome: early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP\u2010binding cassette subfamily a member 12 gene.. Available: https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.13823 [Accessed 01 Oct 2019]."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-235225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:52:26Z","timestamp":1756367546000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-235225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":9,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2020,8,26]]},"published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1136\/bcr-2020-235225"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-235225","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8]]}}}