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A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy
Author(s) -
Danescu Sorina,
Has Cristina,
Baican Corina,
Müller Thomas,
Baican Adrian
Publication year - 2018
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.12805
Subject(s) - incontinentia pigmenti , ciliopathy , medicine , mutation , dermatology , genodermatosis , genetics , gene , phenotype , biology
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.