Ichthyosis molecular fingerprinting shows profound T_H17 skewing and a unique barrier genomic signature.

ABSTRACT:

Background

Ichthyoses are a group of rare skin disorders lacking effective treatments. Although genetic mutations are progressively delineated, comprehensive molecular phenotyping of ichthyotic skin could suggest much-needed pathogenesis-based therapy.

Objective

We sought to profile the molecular fingerprint of the most common orphan ichthyoses.

Methods

Gene, protein, and serum studies were performed on skin and blood samples from 29 patients (congenital ichthyosiform erythroderma, n = 9; lamellar ichthyosis, n = 8; epidermolytic ichthyosis, n = 8; and Netherton syndrome, n = 4), as well as age-matched healthy control subjects (n = 14), patients with psoriasis (n = 30), and patients with atopic dermatitis (AD; n = 16).

Results

Using criteria of a fold change of

SUBMITTER: Malik K 

PROVIDER: S-EPMC7195861 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature