丑角鱼鳞病1例报告。

Peck-Foong Thien, Wen-Jue Soong, Ping-Yao Wang, Ting-Rong Hsu
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摘要

丑角鱼鳞病(HI)是最具破坏性的皮肤病,它是一种常染色体隐性遗传性状,与近亲婚姻有关。虽然产前检查已成为台湾各地的时间表和方便,一个意外的病例HI在男性早产儿在妊娠32周出生。父母健康,无亲属,无先天性异常史。我们报告我们的管理和对父母双方的巨大影响。我们认为这在台湾是极为罕见的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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