Confirmation of the Origin of NISCH Syndrome

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Abstract

Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of theCLDN1gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in theCLDN1gene. Hum Mutat 27(5), 408-410, 2006. © 2006 Wiley-Liss, Inc.

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