A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy. (8th March 2018)

• Record Type: Journal Article
• Authors: Danescu, Sorina; Has, Cristina; Baican, Corina; Müller, Thomas; Baican, Adrian
• Is Part Of: Australasian journal of dermatology. Volume 59:Number 4(2018)
• Page Start: e262
• Page End: e265
• Publication Date: 2018-03-08
• Subjects: hepatic ciliopathy -- IKBKG -- incontinentia pigmenti -- intrahepatic cholestasis -- nuclear factor‐kappa B; Dermatology -- Periodicals; Dermatology -- Australasia -- Periodicals; 616.5005
• DOI: 10.1111/ajd.12805
• Languages: English
• ISSNs: 0004-8380

Abstract

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.