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Harlequin ichthyosis: report of one case
Peck-Foong Thien1, Wen-Jue Soong, Ping-Yao Wang
1Department of Pediatrics, National Yang-Ming University Hospital, Taiwan.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi
|April 29, 2008
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.
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