ArticleSAGE open medical case reports2022
Harlequin ichthyosis newborn: A case report.
Article in SAGE open medical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 3 citations in OpenAlex.
- Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report.Clinical case reports · 2026Article
- Epidemiology and Clinical Characteristics of Harlequin Ichthyosis: A Systematic Review and Meta-Analysis of Case Reports.Dermatology practical & conceptual · 2026Review
- A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.Cureus · 2023Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses. It is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12. Here, we reported a case of harlequin ichthyosis with no family history. No abnormalities were detected in prenatal sonography. A 24-year-old pregnant woman with premature rupture of membrane and labour pain was referred to a hospital in Shoushtar city, Iran. The mother delivered a male baby with harlequin ichthyosis. The infant baby died on the 5th day. Harlequin ichthyosis is associated with adenosine triphosphate binding cassette A 12 gene mutation; therefore, genetic screening and counselling for susceptible parents should be taken into account. Prenatal diagnosis of harlequin ichthyosis principally via sonographic techniques is important in managing the disorder.
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