Peck-Foong Thien, W. Soong, Ping-Yao Wang, Ting-Rong Hsu
{"title":"Harlequin ichthyosis: report of one case.","authors":"Peck-Foong Thien, W. Soong, Ping-Yao Wang, Ting-Rong Hsu","doi":"10.7097/APT.200712.0342","DOIUrl":null,"url":null,"abstract":"Harlequin ichthyosis (HI) is the most devastating form of skin disorder, which is inherited as autosomal recessive trait related to consanguineous marriage. Although prenatal examination has become scheduled and convenient throughout Taiwan, an unexpected case of HI in a male premature infant born at 32 weeks of gestation was presented. The parents were healthy, neither relatives nor having history of congenital abnormality. We report our management and the massive impact left on both parents. We believe this is an extremely rare case in Taiwan.","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2007-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7097/APT.200712.0342","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
Harlequin ichthyosis (HI) is the most devastating form of skin disorder, which is inherited as autosomal recessive trait related to consanguineous marriage. Although prenatal examination has become scheduled and convenient throughout Taiwan, an unexpected case of HI in a male premature infant born at 32 weeks of gestation was presented. The parents were healthy, neither relatives nor having history of congenital abnormality. We report our management and the massive impact left on both parents. We believe this is an extremely rare case in Taiwan.