| pubmed-article:8616001 | pubmed:abstractText | Ehlers-Danlos syndrome type IV is a heritable disease of type III collagen metabolism. Most patients have a defect either in the synthesis or structure of type III procollagen, a finding consistent with the fact that these patients are prone to spontaneous rupture of the aorta and intestines, tissues rich in type III collagen. The diagnosis is suspected in a patient with a combination of clinical manifestations and family history, but it is confirmed only by culture of the patient's skin fibroblasts and the demonstration of a defect in type III collagen metabolism. We present a patient with Ehlers-Danlos type IV syndrome who developed a recurrent colon perforation, and discuss the surgical strategy to prevent recurrences. | lld:pubmed |
