Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies

Dystrophic epidermolysis bullosa inversa is a rare form of epidermolysis bullosa characterized by blister formation in flexural skin areas and by marked oral and esophageal involvement. Recognition of this subset of dystrophic epidermolysis bullosa is important, because its prognosis differs from all other forms of dystrophic epidermolysis bullosa. Investigators recently reported normal staining with antibodies directed against type VII collagen in 14 patients, but electron microscopy in eight patients showed diminished or absent anchoring fibrils. We report here the cases of two additional patients with dystrophic epidermolysis bullosa inversa. One patient had finger web space scarring that required surgical correction and mild syndactyly of toes. Both patients had normal staining with LH 7:2, but electron microscopy showed diminished and rudimentary anchoring fibrils. These findings support the possibility that dystrophic epidermolysis bullosa inversa may be caused by a structural abnormality of type VII collagen that prevents proper assembly of collagen into distinct anchoring fibrils.