{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T05:19:49Z","timestamp":1775107189553,"version":"3.50.1"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,3,21]],"date-time":"2021-03-21T00:00:00Z","timestamp":1616284800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,3,21]],"date-time":"2021-03-21T00:00:00Z","timestamp":1616284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Imaging"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There are few reports on prenatal diagnosis in PubMed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report two cases of HI with no family history who were diagnosed by prenatal ultrasound. We searched for reports on the prenatal ultrasonic diagnosis of HI over nearly two decades and summarized the sonographic features of HI, the reasons for missed diagnoses and matters needing attention. A total of 10 articles of congenital harlequin ichthyosis diagnosed by prenatal ultrasound in PubMed were retrieved. There have been even fewer reports of late-trimester disease with no family history. Combining the two cases we reported with the literature review, we summarize the ultrasonic image characteristics of HI.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>HI can be easily detected by 2D ultrasound combined with 3D, but attention should be paid to a systematic examination in the third trimester of pregnancy according to the clinical characteristics of the disease.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12880-021-00586-4","type":"journal-article","created":{"date-parts":[[2021,3,21]],"date-time":"2021-03-21T04:51:39Z","timestamp":1616302299000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review"],"prefix":"10.1186","volume":"21","author":[{"given":"Yi","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1747-3974","authenticated-orcid":false,"given":"Chaoxue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,21]]},"reference":[{"issue":"9","key":"586_CR1","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1016\/j.ad.2015.03.003","volume":"106","author":"C Arjona-Aguilera","year":"2015","unstructured":"Arjona-Aguilera C, Albarran-Planelles C, Jimenez-Gallo D. Treatment of harlequin ichthyosis with acitretin. Actas Dermosifiliogr. 2015;106(9):759.","journal-title":"Actas Dermosifiliogr"},{"issue":"4","key":"586_CR2","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1016\/j.jdcr.2016.06.011","volume":"2","author":"K Parikh","year":"2016","unstructured":"Parikh K, Brar K, Glick JB, Flamm A, Glick SA. A case report of fatal harlequin ichthyosis: insights into infectious and respiratory complications. JAAD Case Rep. 2016;2(4):301\u20133.","journal-title":"JAAD Case Rep"},{"key":"586_CR3","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/j.ejogrb.2017.01.008","volume":"210","author":"S Lai","year":"2017","unstructured":"Lai S, Flatley C, Kumar S. Perinatal risk factors for low and moderate five-minute Apgar scores at term. Eur J Obstet Gynecol Reprod Biol. 2017;210:251\u20136.","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"issue":"6","key":"586_CR4","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.jflm.2012.02.019","volume":"19","author":"UB Jilumudi","year":"2012","unstructured":"Jilumudi UB. Harlequin ichthyosis: a medico legal case report & review of literature with peculiar findings in autopsy. J Forensic Leg Med. 2012;19(6):352\u20134.","journal-title":"J Forensic Leg Med"},{"issue":"2","key":"586_CR5","doi-asserted-by":"publisher","first-page":"317","DOI":"10.7863\/jum.2010.29.2.317","volume":"29","author":"MJ Kudla","year":"2010","unstructured":"Kudla MJ, Timmerman D. Prenatal diagnosis of harlequin ichthyosis using 3- and 4-dimensional sonography. J Ultrasound Med. 2010;29(2):317\u20139.","journal-title":"J Ultrasound Med"},{"issue":"3","key":"586_CR6","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1038\/sj.jid.5700617","volume":"127","author":"M Akiyama","year":"2007","unstructured":"Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, et al. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Investig Dermatol. 2007;127(3):568\u201373.","journal-title":"J Investig Dermatol"},{"issue":"1","key":"586_CR7","first-page":"449","volume":"17","author":"Q Liang","year":"2019","unstructured":"Liang Q, Xiong F, Liang X, Zheng D, Su S, Wen Y, et al. Two successive cases of fetal harlequin ichthyosis: acase report. Exp Ther Med. 2019;17(1):449\u201352.","journal-title":"Exp Ther Med"},{"issue":"4","key":"586_CR8","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1002\/jcu.22675","volume":"47","author":"P Brand\u00e3o","year":"2019","unstructured":"Brand\u00e3o P, Seco S, Loureiro T, Ramalho C. Prenatal sonographic diagnosis of Harlequin ichthyosis. J Clin Ultrasound. 2019;47(4):228\u201331.","journal-title":"J Clin Ultrasound"},{"issue":"3","key":"586_CR9","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1016\/j.tjog.2018.04.023","volume":"57","author":"W Jian","year":"2018","unstructured":"Jian W, Du QT, Lai ZF, Li YF, Li SQ, Xiong ZT, et al. Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family. 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Approval was granted by the ethics committee of the hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patients gave written consent for their personal or clinical details along with any identifying images to be published in this study. A copy of the written consent is available for review by the Editor of this journal. Every participant in the study agreed to publish the article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"56"}}