[Recurrent perforation of of the sigmoid colon associated with Ehlers-Danlos syndrome type IV].
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.
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