Stillman A E, Painter R, Hollister D W
Day Kimball Hospital, Putnam, Connecticut.
Am J Gastroenterol. 1991 Mar;86(3):360-2.
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.
IV型埃勒斯-当洛综合征是一种III型胶原代谢的遗传性疾病。对于具有临床表现和家族史综合特征的患者会怀疑有此诊断，但只有通过患者皮肤成纤维细胞培养并证明III型胶原代谢存在缺陷才能确诊。该疾病极少会出现自发性结肠穿孔，这一并发症传统上通过对穿孔节段进行一期缝合并造端式结肠造口术来治疗。尝试进行肠再吻合术常常导致结肠反复穿孔。我们报告了首例患有IV型埃勒斯-当洛综合征的患者，其在端式结肠造口近端发生结肠穿孔，并讨论了预防该综合征相关的此类及其他术后并发症复发的手术策略。
