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  • Title: Ehlers-Danlos syndrome type IV: diagnosis and therapy of associated bowel perforation.
    Author: Stillman AE, Painter R, Hollister DW.
    Journal: Am J Gastroenterol; 1991 Mar; 86(3):360-2. PubMed ID: 1998319.
    Abstract:
    Ehlers-Danlos syndrome type IV is a heritable disease of type III collagen metabolism. This 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 demonstration of a defect in type III collagen metabolism. The disease may rarely present with spontaneous colonic perforation, a complication traditionally treated by primary closure of the perforated segment and creation of an end colostomy. Attempts at bowel reanastomosis have often resulted in repeated colon perforations. We present the first patient with Ehlers-Danlos type IV syndrome to develop a colon perforation proximal to an end colostomy, and discuss the surgical strategy to prevent recurrences of this and other postoperative complications associated with the syndrome.
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