ReviewBMC medical imaging2021
Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.
Review in BMC medical imaging, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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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
10 citing papers in PubMed, 18 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
- Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition.BMJ case reports · 2024Article
- A novel variant c.7104 + 6T > A ofFrontiers in pediatrics · 2024Article
- Article
- A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.Cureus · 2023Article
- 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
- Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.Life (Basel, Switzerland) · 2021Article
- Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.Anais brasileiros de dermatologiaReview
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHarlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There are few reports on prenatal diagnosis in PubMed. CASE PRESENTATION: We report two cases of HI with no family history who were diagnosed by prenatal ultrasound. We searched for reports on the prenatal ultrasonic diagnosis of HI over nearly two decades and summarized the sonographic features of HI, the reasons for missed diagnoses and matters needing attention. A total of 10 articles of congenital harlequin ichthyosis diagnosed by prenatal ultrasound in PubMed were retrieved. There have been even fewer reports of late-trimester disease with no family history. Combining the two cases we reported with the literature review, we summarize the ultrasonic image characteristics of HI.
conclusionHI can be easily detected by 2D ultrasound combined with 3D, but attention should be paid to a systematic examination in the third trimester of pregnancy according to the clinical characteristics of the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.