15 citations
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March 2004 in “British Journal of Dermatology” This case report describes a 40-year-old Indian male with sclerosing cholangitis whose skin lesions and liver function improved following surgical treatment.
1 citations
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January 2023 in “Pediatric Dermatology” This case study of a neonate with ichthyosis and ILVASC demonstrates how an interdisciplinary approach facilitated a timely genetic diagnosis and management of complications.
5 citations
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June 2015 in “British Journal of Dermatology” This article discusses the role of lysophosphatidic acid-induced histamine release in generalized pruritus among patients with primary sclerosing cholangitis and reports no new clinical results.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
October 2025 in “Clinical and Experimental Pediatrics” 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.