Neonatal Ichthyosis And Sclerosing Cholangitis Syndrome

    September 2011 in “ Journal of Pediatric Gastroenterology and Nutrition ”
    Massimiliano Paganelli, Xavier Stephenne, Allison Gilis, Emmanuel Jacquemin, Alexandra Henrion Caude, Muriel Girard, Emmanuel Gonzalès, Nicole Revencu, Raymond Reding, Catherine Wanty, Françoise Smets, Etienne M. Sokal, Massimiliano Paganelli, Xavier Stephenne, Allison Gilis, Catherine Wanty, Françoise Smets, Etienne M. Sokal
    TLDR NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
    Neonatal Ichthyosis and Sclerosing Cholangitis (NISCH) syndrome was a rare autosomal recessive disorder linked to a mutation in the CLDN1 gene, affecting liver and skin cells. The study added 4 new cases from a Moroccan family to the 8 previously known, highlighting phenotypic variability and a potential founder effect in this population. Symptoms included ichthyosis, alopecia, and progressive cholestasis, with liver disease severity varying among patients. While ursodeoxycholic acid (UDCA) therapy showed some improvement in cholestasis, liver transplantation did not improve skin conditions. The study underscored the importance of understanding NISCH syndrome as a model of claudin-1 deficiency, which could aid in developing future treatments.
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