Pathomorphological and biochemical alterations in Ehlers-Danlos-syndrome type IV

We are reporting the morphological and biochemical data of a patient with the characteristic features of the Ehlers-Danlos-Syndrome Type IV (Sack-Barabas Type) who died acutely after an episode of recurrent ruptures of the bowel with subsequent septic peritonitis. Morphologically, the connective tissue of the vessel walls, the dermis and the connective tissue of internal organs, particularly that of liver and lung, showed a distinct hypoplasia of the collagenous scaffold. Collagen fibers were irregularly arranged which was also corroborated by ultrastructural examination of the collagen fibrils of the dermis and of intervertebral disc material. Immunohistochemically, a loss in the staining intensity for collagen III could be observed in all locations. In contrast, the localization of collagen I, IV, V and VI appeared normal, although with some reduced staining intensity which particularly held true for collagen I in the dermis and vessel wall. The biochemical content of collagen III in lung and liver tissue was significantly reduced when compared to control tissues. Accordingly, in the pool of newly synthesized collagen from skin fibroblasts, only minute amounts of collagen III could be found which was normally secreted and had a normal electrophoretic migration.