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, 17 (1), 449-452

Two Successive Cases of Fetal Harlequin Ichthyosis: A Case Report


Two Successive Cases of Fetal Harlequin Ichthyosis: A Case Report

Qianhong Liang et al. Exp Ther Med.


Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. The present study reports a case of a pregnant woman who underwent two successive pregnancies at the ages of 35 and 36, respectively, with both fetuses presenting with HI. The first fetus was delivered alive though succumbed shortly after birth, while the second fetus was stillborn and birthed by induced labor. The fetuses exhibited typical features of fetal HI, including thick, platelike scaling and fissuring, which act as a nidus for infection. The present study is the first to report two cases of fetal HI from successive pregnancies in the same woman. Improved understanding of the genetic basis of HI indicates that genetic screening for candidate gene mutations related to HI, particularly mutations in the adenosine triphosphate binding-cassette transporter ABCA12, may prove beneficial in prenatal diagnosis. Establishing methods for early diagnosis of fetal HI may reduce the physical and mental distress to parents and relatives.

Keywords: harlequin ichthyosis; pregnancy; sonography.


Figure 1.
Figure 1.
Sonography of the first fetus at thirty weeks of gestation. Representative images of (A) fixed flexion deformity of the extremities and (B) a flattened nose with thickened skin in the head region are presented.
Figure 2.
Figure 2.
Three-dimensional sonography construction at twenty-four weeks of gestation exhibited typical characteristics of HI in the fetus, including (A) fixed flexion deformity of the extremities and (B) thickened lips and open mouth.

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