Clinical and Experimental Pediatrics

Review Article

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

Crossref 2

· 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

Case Report

Autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome in a 10-year-old girl with ulcerative colitis

Jeana Hong, Mi Kyoung Song, Jae Sung Ko, Gyeong Hoon Kang, Woo Sun Kim, Jeong Kee Seo

Clin Exp Pediatr. 2009;52(4):504-507. Published online April 15, 2009

Autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and primary biliary cirrhosis (PBC) are chronic autoimmune liver diseases. Overlap syndrome is defined as a condition in which the clinical, biochemical, and histological features of these autoimmune diseases are overlapped. Thus, it is difficult to appreciate overlap syndrome as an actual diagnostic entity. Only a few cases of the overlap syndrome of...

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A case of Primary Sclerosing Cholangitis with Ulcerative Colitis

Jung Sue Kim, Yon Ho Choe, Chong Jai Kim, Woo Sun Kim, In-One Kim, Jeong Kee Seo

Clin Exp Pediatr. 1996;39(10):1448-1454. Published online October 15, 1996

An association between primary sclerosing cholangitis and ulcerative colitis is well known. But, primary sclerosing cholangitis with ulerative colitis has been rarely reported in children. The prevalence of primary sclerosing cholangitis among ulcerative colitis patiens is 3% in children. Primary sclerosing cholangitis is characterised by inflammation and fibrosis of the intrahepatic and extrahepatic bile ducts. The diagnosis of primary sclerosing cholangitis based on biochemical, histologic...

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