Features of the clinical course of vulgar ichthyosis: description of a clinical case

Abstract

Vulgar ichthyosis (VI) (OMIM #146700, ichthyosis simplex) is the most frequent congenital disorder of keratinization, is relatively mild in clinical manifestations of the whole group of non-syndromal ichthyoses. VI is the most frequent genodermatosis (1:250-1:5300 people). The disease is caused by pathogenic variants in the filaggrin gene (OMIM #135940, FLG). The FLG gene consists of three exons and two introns and is localized in the epidermal differentiation complex gene cluster on the short arm of chromosome 1 (1q21). VI is inherited in a semidominant manner. Both pathogenic variants in the FLG gene in the heterozygous state, in which case the penetrance of the disease is about 90%, and biallelic variants can lead to the development of VI. This study examines the clinical course of VI in a family with features of the disease: a proband homozygous for the variant NM_002016.2(FLG):c.2282_2285del p.(Ser761Cysfs*36) and his parents heterozygous for the proband’s variant.