We report a 3-year-old girl with inflammatory linear verrucous epidermal naevus (ILVEN) in whom whole-exome sequencing with Sanger confirmation identified a postzygotic mosaic DSG1 c.1684GA (p.Gly562Arg) variant in lesional skin. Using the recently proposed pathogenesis-guided classification framework, we designate this presentation as DSG1-nonsyndromic epidermal differentiation disorder-linear. This finding adds DSG1 to the spectrum of genes associated with ILVEN and further clarifies the clinical heterogeneity and genotype-phenotype correlations of DSG1-related diseases.
Wei et al. (Wed,) studied this question.