Patients with Ehlers Danlos syndrome type IV lack type III collagen

Abstract

One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen, Ehlers Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers Danlos syndrome IV patients results from an absence of type III collagen.