Epidermolysis Bullosa

Group of inherited disorders with blister formation in response to mechanical trauma

Aetiology

  • >10 genes involved in skin structure and adhesion

Pathophysiology

  • Three main types - simplex, junctional, dystrophic

Clinical presentation

  • Epidermolysis bullosa simplex usually has little or no extracutaneous involvement, while the more severe hemidesmosomal, junctional and dystrophic forms of EB may produce significant multiorgan system involvement

Investigations

  • Skin biopsy

Management

  • Supportive e.g. wound care