Novel <italic>CLDN1</italic> mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease.

The article presents a case study of a girl having mild phenotype of congenital ichthyosis and hypotrichosis which is linked to a new mutation in CDLN1. The hair of the patient was extremenly brittle and she did not have eyelashes or eyebrows. Her mother reported that enamel of her milk teeth was previously dysplastic.