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  • Title: [Recurrent perforation of of the sigmoid colon associated with Ehlers-Danlos syndrome type IV].
    Author: Doblado Cardellach B, Figueroa Andolla JM, Martín Pérez E, Delgado de Torres S, Pérez García A, Blasco Delgado O, López-Yarto J, Serrano Sánchez P.
    Journal: Rev Esp Enferm Dig; 1996 Jan; 88(1):43-5. PubMed ID: 8616001.
    Abstract:
    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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