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