The complex pathophysiology and clinical management of epidermolysis bullosa: a comprehensive review

Abstract

Epidermolysis bullosa (EB) represents a group of rare, genetically heterogeneous disorders characterized by the formation of blisters and erosions of the skin and mucous membranes in response to minor mechanical trauma. EB is classified into four major types-EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, each associated with mutations in specific genes that encode structural proteins essential for skin integrity. The clinical spectrum of EB ranges from mild forms, presenting with localized skin involvement, to severe variants that lead to widespread blistering, mutilating scarring, and significant morbidity. The pathophysiology of EB is complex, involving disruptions in the adhesion between the dermis and epidermis, leading to compromised structural stability of the skin. Current therapeutic strategies focus on symptom management, including wound care, infection prevention, and pain control, as no definitive cure exists. Advances in gene therapy, stem cell therapy, and protein replacement therapy hold promise for future treatment paradigms. This review aims to elucidate the molecular underpinnings, clinical manifestations, and emerging therapeutic approaches for EB, providing a comprehensive overview for clinicians and researchers engaged in the management and study of this challenging condition.