A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy

Abstract

We describe a new mutation in exon 4 of IKBKG, encoding nuclear factor-kappa B in a patient with incontinentia pigmenti. The patient had a severe cholestatic liver disease with features of a ciliopathy and underwent liver transplantation. We cannot establish a link between incontinentia pigmenti, a very rare disease, and hepatic ciliopathy, but we suggest that hepatic evaluation should be considered in patients with incontinentia pigmenti.

Keywords: IKBKG; hepatic ciliopathy; incontinentia pigmenti; intrahepatic cholestasis; nuclear factor-kappa B.