Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease

Abstract

Ichthyosis-hypotrichosis-sclerosing-cholangitis (IHSC is a rare autosomal recessive syndrome of ichthyosis, scalp hypotrichosis, and sclerosing cholangitis (MIM 607626).[1, 2] Oligodontia, hypodontia and dysplastic enamel have been described as well, as have intracytoplasmic vacuoles in eosinophils, mild psychomotor delay and bilateral anterior uveal synechiae.[2] IHSC is caused by homozygous mutations in the CLDN1 gene which codes for claudin-1, a key component of tight junctions in association with Occludin and junctional adhesion molecules.[2]

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