Tape strips capture immune and epidermal hyperplasia markers in the major orphan ichthyoses

This pilot study examined gene expression in tape strip samples obtained from 9 patients with Netherton Syndrome (NS), 6 patients with congenital ichthyosiform erythroderma (CIE), 7 patients with lamellar ichthyosis (LI), and 5 patients with epidermolytic ichthyosis (EI), as well as from 18 demographically matched healthy controls. Differential expression was defined with |fold-change/FCH|>2 and false discovery rate/FDR<0.05. All subtypes shared significant Th17/Th22 upregulation, and Th2 products were particularly increased in NS. Tape strips additionally captured common increases in Th1 and IL4R upregulation in NS, LI, and EI. Epidermal differentiation complex/cornified envelope (EDC-CE) genes were increased in all or most subtypes. Changes in immune and EDC-CE tape-strip markers correlated significantly and positively with those measured in biopsies.