{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:57:14Z","timestamp":1762505834198},"reference-count":25,"publisher":"Springer Publishing Company","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:p>Harlequin ichthyosis is an extremely rare and historically lethal congenital disorder of the skin caused by abnormal keratinization. This article reviews the embryology and currently understood pathophysiology of the disease, as well as current methods used to diagnose and treat these infants. There are serious implications for the family to consider: the high risk that their newborn will die soon, as well as future family planning issues.<\/jats:p>","DOI":"10.1891\/0730-0832.24.3.17","type":"journal-article","created":{"date-parts":[[2011,11,16]],"date-time":"2011-11-16T14:46:25Z","timestamp":1321454785000},"page":"17-23","source":"Crossref","is-referenced-by-count":8,"title":["A Review of Harlequin Ichthyosis"],"prefix":"10.1891","volume":"24","author":[{"given":"Lt. Jason","family":"Layton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"793","published-online":{"date-parts":[[2005,5,1]]},"reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"Moreau S, et al. 1999. Harlequin fetus: A case report. <i>Surgical and Radiologic Anatomy<\/i> 21(3): 215\u2013216.","DOI":"10.1007\/BF01630905"},{"issue":"4","key":"2","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/ajmg.1506","article-title":"De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.","volume":"102","author":"H Stewart","year":"2001","journal-title":"American Journal of Medical Genetics"},{"key":"3","doi-asserted-by":"crossref","unstructured":"Gurses D, Kilic I, and Baskan M. 2001. A case of harlequin fetus with psoriasis in his family. <i>The Internet Journal of Pediatrics and Neonatology<\/i> 2(1). Retrieved July 12, 2003, from <a target=\"_blank\" href='http:\/\/www.ispub.com\/ostia\/index.php?xmlFilePath=journals\/ijpn\/vol2n1\/harlequin\/xml'>http:\/ \/www.ispub.com\/ostia\/index.php?xmlFilePath=journals\/ijpn\/ vol2n1\/harlequin\/xml<\/a>","DOI":"10.5580\/27f3"},{"key":"4","unstructured":"Au S, and Prendiville J. 2001. Ichthyosis fetalis. <i>Emedicine.com.<\/i> Retrieved July 12, 2003, from <a target=\"_blank\" href='http:\/\/www.emedicine.com\/derm\/topic192.htm'>http:\/\/www.emedicine.com\/ derm\/topic192.htm<\/a>"},{"issue":"6","key":"5","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1111\/j.1365-4362.1982.tb03144.x","article-title":"Ichthyosis congenital fetalis.","volume":"21","author":"C Kouskoukis","year":"1982","journal-title":"International Journal of Dermatology"},{"issue":"3","key":"6","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1046\/j.1365-2133.2001.04401.x","article-title":"Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythoderma.","volume":"145","author":"E Virolainen","year":"2001","journal-title":"British Journal of Dermatology"},{"issue":"7","key":"7","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1046\/j.1365-4362.2001.01173.x","article-title":"Successful treatment of harlequin ichthyosis with acitretin.","volume":"40","author":"S Singh","year":"2001","journal-title":"International Journal of Dermatology"},{"issue":"1","key":"8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1542\/pir.20-1-5","article-title":"Ichthyosis in a nutshell.","volume":"20","author":"T. Shwayder","year":"1999","journal-title":"Pediatrics in Review"},{"key":"9","unstructured":"Sadler TW. 2000. Integumentary system. In <i>Langman's Medical Embryology<\/i>, 8th ed., Katz S, Scogna KH, and Cady B, eds. Philadelphia: Lippincott Williams & Wilkins, 405\u2013406."},{"issue":"2","key":"10","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/(SICI)1097-0223(199902)19:2<167::AID-PD477>3.0.CO;2-V","article-title":"Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks estimated gestational age.","volume":"19","author":"M Akiyama","year":"1999","journal-title":"Prenatal Diagnosis"},{"issue":"6","key":"11","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/1523-1747.ep12476847","article-title":"The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: Morphologic and biochemical studies.","volume":"91","author":"KA Holbrook","year":"1988","journal-title":"The Journal of Investigative Dermatology"},{"issue":"5","key":"12","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/(SICI)1097-0223(199805)18:5<425::AID-PD284>3.0.CO;2-B","article-title":"Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses.","volume":"18","author":"M Akiyama","year":"1998","journal-title":"Prenatal Diagnosis"},{"issue":"9","key":"13","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/j.1346-8138.2000.tb02237.x","article-title":"Three unusual siblings with harlequin ichthyosis in an Indian family.","volume":"27","author":"R Sarkar","year":"2000","journal-title":"The Journal of Dermatology"},{"issue":"2","key":"14","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1111\/j.1600-0560.1998.tb01699.x","article-title":"Collodion baby and lamellar ichthyosis.","volume":"25","author":"B Sandler","year":"1998","journal-title":"Journal of Cutaneous Pathology"},{"issue":"2","key":"15","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/S0923-1811(99)00024-9","article-title":"The pathogenesis of severe congenital ichthyosis of the neonate.","volume":"21","author":"M. Akiyama","year":"1999","journal-title":"Journal of Dermatological Science"},{"issue":"6","key":"16","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1046\/j.1365-2133.1999.03199.x","article-title":"The calcium-activated neutral protease calpain I is present in normal foetal skin and is decreased in neonatal harlequin ichthyosis.","volume":"141","author":"M Michel","year":"1999","journal-title":"British Journal of Dermatology"},{"key":"17","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1042\/bj3280721","article-title":"Structure and physiological function of calpains. Part 3.","volume":"328","author":"H Sorimachi","year":"1997","journal-title":"Biochemical Journal"},{"issue":"1","key":"18","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1046\/j.1469-0705.2002.00708.x","article-title":"Harlequin fetus: Three-dimensional sonographic findings and new diagnostic approach.","volume":"20","author":"A Bongain","year":"2002","journal-title":"Ultrasound in Obstetrics and Gynecology"},{"key":"19","doi-asserted-by":"crossref","unstructured":"Kurtoglu S, et al. 1998. Collodion baby concomitant with congenital hypothyroidism: A patient report and review of the literature. <i>Journal of Pediatric Endocrinology and Metabolism<\/i> 11(4): 569\u2013573.","DOI":"10.1515\/JPEM.1998.11.4.569"},{"issue":"5","key":"20","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/j.1552-6909.2002.tb00076.x","article-title":"Against all odds: Breastfeeding a baby with harlequin ichthyosis.","volume":"31","author":"P Ripmeester","year":"2002","journal-title":"Journal of Obstetric, Gynecologic, and Neonatal Nursing"},{"issue":"3","key":"21","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1001\/archopht.119.3.454","article-title":"Ocular management of harlequin syndrome.","volume":"119","author":"CN Chua","year":"2001","journal-title":"Archives of Ophthalmology"},{"issue":"3","key":"22","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/S0002-9394(02)01567-2","article-title":"Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin.","volume":"134","author":"SM Culican","year":"2002","journal-title":"American Journal of Ophthalmology"},{"issue":"6","key":"23","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1046\/j.1365-2133.1999.03200.x","article-title":"Improved topical treatment of lamellar ichthyosis: A double-blind study of four different cream formulations.","volume":"141","author":"A Ganemo","year":"1999","journal-title":"British Journal of Dermatology"},{"issue":"5","key":"24","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1001\/archderm.134.5.640","article-title":"Topical application of Tazarotene in the treatment of nonerythrodermic lamellar ichthyosis.","volume":"134","author":"H Stege","year":"1998","journal-title":"Archives of Dermatology"},{"issue":"6","key":"25","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1177\/000992280204100615","article-title":"Neonatal salicylate poisoning during the treatment of a collodion baby.","volume":"41","author":"S Yamamura","year":"2002","journal-title":"Clinical Pediatrics"}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/0730-0832.24.3.17","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T21:35:20Z","timestamp":1568842520000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/0730-0832.24.3.17"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2005,5,1]]},"published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1891\/0730-0832.24.3.17"],"URL":"https:\/\/doi.org\/10.1891\/0730-0832.24.3.17","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"value":"0730-0832","type":"print"},{"value":"1539-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5]]}}}