Epidermolysis bullosa simplex generalisata: importance of immunofluorescence studies in early diagnosis.
An unusual case of severe generalized epidermolysis bullosa (EB) simplex is described. Its severity, oral involvement and early milia formation suggested a dystrophic form of the disease, but early immunofluorescence studies on skin biopsy material using bullous pemphigoid (BP) serum clearly showed the level of cleavage to be superficial to the dermo-epidermal junction and microscopy confirmed this. The diagnosis of EB simplex was thus quickly established allowing conservative treatment to be pursued with confidence, and preventing unnecessary exposure of the child to systemic corticoid or phenytoin therapy.
D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000473:pathology; D005455:Fluorescent Antibody Technique; D006801:Humans; D007223:Infant; D008297:Male; D010391:Pemphigoid, Bullous / Q000276:immunology; D012867:Skin / Q000648:ultrastructure