Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome

Definition:

Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal cholestatic jaundice. Alopecia is also seen and cholestasis often progresses to sclerosing cholangitis.

References:

[1]. Brigitte Grosse, et al. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatology. 2012 Apr;55(4):1249-59. [Content Brief]

[2]. Massimiliano Paganelli, et al. Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency. J Pediatr Gastroenterol Nutr. 2011 Sep;53(3):350-4. [Content Brief]

[3]. Victoria E H Carlton, et al. Molecular basis of intrahepatic cholestasis. Ann Med. 2004;36(8):606-17. [Content Brief]

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