Harlequin Ichthyosis: Report of One Case

先天性魚鱗癬症：一病例報告

鄧碧鳳(Peck-Foong Thien) ； 宋文舉(Wen-Jue Soong) ； 王炳耀(Ping-Yao Wang) ； 許庭榕(Ting-Rong Hsu)

《Acta Paediatrica Taiwanica》 48卷6期 (2007/12) Pp. 342-344

https://doi.org/10.7097/APT.200712.0342

摘要

在兒童的先天性魚鱗癬症中，Harlequin ichthyosis是最爲嚴煎的種，在台灣極爲少見。先天性生魚鱗癬是一種自體顯性或隱性遺傳。一般認爲，近親結婚所生的子女，容易罹患此病的機率較高。目前產前檢查在全台灣已相當普及且方便，然而仍有漏網之虞。本篇報導－無預警情況下出生之32週單產兒具典型先天性魚鱗癬症狀。其父母皆健康、無遺傳性疾病或近親關係。本文報告我們的處置、回顧文獻，並強調產前檢查準確性及遺傳咨詢的重要性。深信此案例爲台灣新生兒罕見病例之一。

關鍵字

先天性魚鱗癬症 ； 產前檢查 ； 新生兒

並列摘要

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.

並列關鍵字

Harlequin ichthyosis ； prenatal diagnosis ； newborn