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Gastroenterology

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review

Upasana Ghosh, Ankit Agrawal, Varunvenkat M. Srinivasan, Rani Manisha, Umesh Shukla, Vikas Jain, Mayank Nilay, Harish Kumar

Clin Exp Pediatr. 2025;68(11):858-867. Published online October 2, 2025

· Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is a rare autosomal recessive disorder characterized by cholestasis and manifestations such as generalized ichthyosis, alopecia, and dental anomalies.
· The clinical features of NISCH syndrome are distinct and necessitate an early genetic diagnosis.
· The disease phenotype can vary significantly, ranging from no liver involvement and transient neonatal cholestasis to end-stage liver disease.
· Management requires a multidisciplinary approach with long-term follow-up.

DOI: https://doi.org/10.3345/cep.2025.00906

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