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

Neonatal ichthyosis-sclerosing cholangitis syndrome (NISCH) is a rare autosomal recessive disorder characterized by symptoms such as cholestasis, ichthyosis, alopecia, and dental anomalies. This case report presents a 2-month-old boy with a novel CLDN1 mutation, c.36dupT, who showed improvement with symptomatic management. A literature review of 37 cases revealed that ichthyosis was present in all patients, with jaundice, pruritus, hepatomegaly, and splenomegaly also common. The most affected ethnicity was Moroccan, and the most frequent mutation was c.200_201delTT. The disease's severity varied, with some cases progressing to end-stage liver disease, necessitating liver transplantation in five patients. A multidisciplinary approach and close monitoring are recommended due to the syndrome's variable phenotypes.