245 RNAseq profiling highlights immune and barrier differences among ichthyoses

Transcriptional analyses of a small sample of patients with rare forms of ichthyosis have suggested a shared Th17-skewed profile. To elucidate pathogenic differences among ichthyoses, we performed RNAseq on skin of a large cohort (n=56) ichthyosis patients (7 Netherton syndrome/NS, 16 lamellar ichthyosis/LI, 18 congenital ichthyosiform erythroderma/CIE, 13 epidermolytic ichthyosis/EI, and 2 ichthyosis with confetti/IWC) vs. 40 matched controls. Using threshold of fold change/FCH>2 and false discovery rate/FDR

Source: Journal of Investigative Dermatology - June 17, 2020 Category: Dermatology Authors: K. Malik, H. He, A. Pavel, T. Canter, T. Erickson, J. Krueger, S. Rangel, E. Guttman-Yassky, A.S. Paller Tags: Epidermal Structure and Barrier Function Source Type: research