Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

ABSTRACT:

Background

Morphoea can have a significant disease burden. Aetiopathogenesis remains poorly understood, with very limited existing genetic studies. Linear morphoea (LM) may follow Blascho's lines of epidermal development, providing potential pathogenic clues.

Objective

The first objective of this study was to identify the presence of primary somatic epidermal mosaicism in LM. The second objective was tTo explore differential gene expression in morphoea epidermis and dermis to identify potential pathogenic molecular pathways and tissue layer cross-talk.

Methodology

Skin biopsies from paired affected and contralateral unaffected skin were taken from 16 patients with LM. Epidermis and dermis were isolated using a 2-step chemical-physical separation protocol. Whole Genome

SUBMITTER: Saracino AM 

PROVIDER: S-EPMC10366313 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature