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

Australas J Dermatol. 2018 Nov;59(4):e262-e265. doi: 10.1111/ajd.12805. Epub 2018 Mar 8.

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.

Publication types

  • Case Reports

MeSH terms

  • Cholestasis, Intrahepatic / etiology*
  • Cholestasis, Intrahepatic / pathology
  • Ciliopathies / complications
  • Ciliopathies / genetics*
  • Female
  • Humans
  • I-kappa B Kinase / genetics*
  • Incontinentia Pigmenti / complications
  • Incontinentia Pigmenti / genetics*
  • Infant
  • Mutation

Substances

  • IKBKG protein, human
  • I-kappa B Kinase

Associated data

  • GENBANK/NM_001099857.2