Bruckner-Tuderman L Pfaltz M Schnyder UW 1990 A 4-year-old child with dystrophic epidermolysis bullosa inversa is described. Clinical features were blistering of the skin, erosions, scarring and milia formation. The areas involved included the trunk, with preference for the axillary and inguinal folds, the neck and sacral area, and proximal extremities. Notably, the hands and feet were completely spared, with only mild nail dystrophy. Ultrastructural analysis revealed dermolytic blistering and absent or rudimentary anchoring fibrils. Collagen VII, the main structural protein of these fibrils, was present in the skin, as shown by indirect immunofluorescence. These findings suggest that a mutation that prevents appropriate supramolecular aggregation of collagen VII into anchoring fibrils may underlie this subtype of dystrophic epidermolysis bullosa in some patients. https://sonar.ch/global/documents/3361 eng info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1525-1470.1990.tb00666.x info:eu-repo/semantics/altIdentifier/pmid/2193305 Pediatric dermatology. - 1990 Autoantibodies Autoantigens Carrier Proteins Child, Preschool Collagen Cytoskeletal Proteins Dystonin Epidermolysis Bullosa Female Fluorescent Antibody Technique Humans Laminin Nerve Tissue Proteins Non-Fibrillar Collagens Skin Epidermolysis bullosa dystrophica inversa in a child. http://purl.org/coar/resource_type/c_6501