Oneliner_283

OneLiner

Epidermolysis Bullosa – caused by mutations involving intraepidermal & dermoepidermal adhesion complexes. Presentation: epithelial fragility (bullae, erosions, ulcers) due to minor trauma. Friction induced blisters at palms & soles, infants may have oral ulcers. Pathogenesis: Impaired assembly of keratin into filaments.