title: Harlequin ichthyosis: report of one case.
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.
authors.affiliation: Department of Pediatrics, National Yang-Ming University Hospital, Taiwan.
authors.forename: Peck-Foong
authors.initials: PF
authors.lastname: Thien
authors.forename: Wen-Jue
authors.initials: WJ
authors.lastname: Soong
authors.forename: Ping-Yao
authors.initials: PY
authors.lastname: Wang
authors.forename: Ting-Rong
authors.initials: TR
authors.lastname: Hsu
mesh_terms: D006801:Humans; D017490:Ichthyosis, Lamellar / Q000000981:diagnostic imaging / Q000473:pathology*; D007231:Infant, Newborn; D008297:Male; D016216:Ultrasonography, Prenatal