ArticleExperimental and therapeutic medicine2019
Two successive cases of fetal harlequin ichthyosis: A case report.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Epidemiology and Clinical Characteristics of Harlequin Ichthyosis: A Systematic Review and Meta-Analysis of Case Reports.Dermatology practical & conceptual · 2026Review
- Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.Children (Basel, Switzerland) · 2022Review
- Harlequin ichthyosis newborn: A case report.SAGE open medical case reports · 2022Article
- Harlequin fetus: A mayhem in a consanguineous marriage?Clinical case reports · 2021Article
- Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.BMC medical imaging · 2021Review
- Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.Frontiers in genetics · 2020Article
- Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.Anais brasileiros de dermatologiaReview
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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