Two successive cases of fetal harlequin ichthyosis: A case report

Abstract

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.

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

“…Fetal ultrasonography of our patient showed bilateral clubfeet and club hands, which seemed to be a misinterpretation of the fixed flexion and thick skin covering the hands and feet that are presented in HI [12]. For more severe cases, ectropion, an absent nose, a large gaping open mouth, and swollen or abnormal position of the hands and feet could be observed by fetal ultrasonography [13].…”

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

“…HI can therefore largely be explained by genetic variations. With the development of medical techniques, HI with a family history could be successfully diagnosed at the prenatal stage ( Yanagi et al, 2008 ; Ahmed and O’Toole, 2014 ; Rathore et al, 2015 ; Xie et al, 2016 ; Jian et al, 2018 ; Loo et al, 2018 ; Sheth et al, 2018 ; Liang et al, 2019 ). Here, we report a case without a family history of HI.…”

Siblings with congenital ichthyosis – A case report

“…In the majority of cases, the affected fetus succumbs in the intrauterine period and a few are born alive. Newborn babies with HI have severe respiratory and feeding difficulties [1,2].…”

“…The common inherited variety is subdivided as autosomal dominant or recessive [1]. Harlequin ichthyosis (HI) is severe a fatal form of autosomal recessive type of congenital ichthyosis [2]. The incidence is very low ~1 in 200,000 births [3].…”