Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome Caused by a Novel CLDN1 Mutation: A Case Report and Literature Review

    October 2025 in “ Clinical and Experimental Pediatrics ”
    Upasana Ghosh, Ankit Agrawal, Varunvenkat M Srinivasan … Harish Kumar
    Studysummary In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
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    Research cited in this study 3

    1. Early Diagnosis of Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis Syndrome: A Case Report Pediatric Dermatology · 2023
    2. Tight Junction Barriers in Human Hair Follicles – Role of Claudin-1 Scientific reports · 2018
    3. Neonatal Ichthyosis And Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011