IGA-EPIDERMOLYSIS BULLOSA-ACQUISITA IN A CHILD RESULTING IN BLINDNESS

Epidermolysis bullosa acquisita (EBA) is an acquired subepidermal bull ous disease characterized by IgG autoantibodies directed against type VII collagen, the major component of anchoring fibrils. The classical phenotype of EBA is a non-inflammatory, mechanobullous disease resembl ing the dystrophic forms of inherited epidermolysis bullosa. Mucous me mbrane involvement is frequent but usually mild. We report a 1-year-ol d girl suffering from IgA-EBA, who presented with an initial eruption of disseminated urticarial lesions and tense blisters of the skin but subsequently developed severe oral and ocular lesions reminiscent of c icatricial pemphigoid. Direct immunofluorescence of the skin and bucca l mucosa revealed linear IgA and C3 at the basement membrane zone (BMZ ). IgA anti-BMZ autoantibodies stained the dermal side of salt-split s kin by indirect immunofluorescence and recognized a dermal protein of 290 kDa co-migrating with type VII collagen by immunoblotting. Direct and indirect immunoelectron microscopy revealed IgA deposits overlying the anchoring fibrils. The ocular involvement led to total blindness in spite of intense treatment. This case of childhood IgA-EBA is parti cularly striking because of the cicatricial pemphigoid phenotype with severe ocular involvement which resulted in blindness. It reinforces t he necessity to use modern immunological methods to classify autoimmun e bullous diseases in order to allow early and appropriate treatment.