Stairways to Advanced Therapies for Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a devastating genetic skin disease typified by a plethora of different phenotypes and ranking from severe, early lethal, to mild localized forms. Although there is no cure for EB, recent progress in pharmacology and molecular and cellular biology is boosting the development of new advanced therapeutic strategies. Here we will focus on two main categories of such therapies: (1) those aimed at controlling inflammation and inducing reepithelialization of the wounds, and (2) those, perhaps more challenging and ambitious, that aim to permanently regenerate a fully functional epidermis, which requires targeting of epidermal stem cells. In both cases, the genetic variants underlying the different EB forms and factors, such as genetic background, modifier genes, comorbidities, and lifestyle, all of which impinge on EB genotype-phenotype correlation, need to be defined.

Automated summary

Epidermolysis bullosa (EB) is a genetic skin disease with diverse phenotypes, ranging from severe to mild forms. Recent advancements in pharmacology and biology have led to the development of new therapeutic strategies for controlling inflammation, promoting wound healing, and targeting epidermal stem cells for tissue regeneration. However, understanding the genetic variants and other factors that influence the correlation between genotype and phenotype in EB is crucial for effective treatment.