Harlequin Fetus-A Case Report

斑色胎（harlequin fetus）是先天性魚鱗癬（congenital ichthyosis）中最嚴重的一種，其特徵為皮膚增厚、過度角質化及深裂。本文報告1例懷孕37週，出生體重1,816公克的新生兒，Apgar score在1分鐘及5分鐘時分別7和9。家族中其外祖父、外祖母為同族同姓之近親結婚，無先天性魚鱗癬之病史。理學檢查皮膚硬厚和明顯的橫縱向深裂、眼皮外翻（ectropion）、鼻子和耳朵扁平且變形、唇外翻（eclabium）形成魚嘴樣變形、四肢關節內縮變曲且僵硬。呼吸無窘迫現象，吸吮能力不良。實驗室檢查包括血液生化、尿液和大便檢查皆在正常範圍。皮膚活體切片檢查顯示明顯的皮膚增厚和過度角質化現象（hyperkeratosis）。病嬰雖在加護病房細心照顧，但仍於第5天因敗血症而死亡。斑色胎目前仍無有效的治療，皮膚的潤滑及保護在防止感染以延長生命，但預後很差。

關鍵字

斑色胎；先天性魚鱗癬；眼皮外翻；唇外翻；過度角質化

並列摘要

Harlequin fetus is the most severe form of congenital ichthyosis. It is characterized by skin which is thickened, hyperkeratotic, and deeply fissured. Our patient was born by Cesarean section due to breech presentation and premature rupture of fetal membranes. The Apgar scores were 7 and 9 at one and five minutes. There was no family history of any form of ichthyosis and chromosomal studies were normal. The patient's grandmother & grandfather carry the same last name, and both of them belong to the Haka population of Taiwanese. Her body was covered in large, thick, rigid scales that split to reveal moist fissures. There was severe ectropion and ecIabium. The hands and feet were deformed and clenched in a flexed position. Respiration was normal, but the baby was unable to suck effectively. The laboratory data were within normal limits. Skin biopsy revealed marked hyperkeratosis. The infant was placed in the intensive care unit and died of sepsis on the fifth day of life. No treatment was of benefit. Lubrication of the skin and protection from infection may prolong life. The prognosis is hopeless and there is no means of prevention.

並列關鍵字

Harlequin fetus ； Ectropion ； Eclabium ； Hyperkeratosis

國際替代計量

Harlequin Fetus-A Case Report

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