Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.

ABSTRACT: Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to occasional acral blistering in the mildest types. The subtype and severity of EB is linked to the gene involved and the specific variants in that gene, which also determine its mode of inheritance. Current treatment is mainly focused on symptomatic relief such as wound care and blister prevention, because truly curative treatment options are still at the preclinical stage. Given the current level of understanding, the broad spectrum of genes and variants underlying EB makes it impossible to develop a single treatment strategy for all patients.

SUBMITTER: Vermeer FC 

PROVIDER: S-EPMC8621297 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature