INTRODUCTION: Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include @entity694 , extensive @entity7261 , and friable tissues. We describe the case of a @entity1 who was found to have perforation of the sigmoid colon secondary to an undiagnosed @entity2597 ( @entity4243 ) while undergoing surveillance for @entity14 . CASE PRESENTATION: A 33-year-old Caucasian @entity1 presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of @entity14 screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa @entity298 . A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common @entity1029 as well. Hartmann's procedure was performed during laparotomy. The @entity1 recovered well post-operatively and was discharged. Reversal of the Hartmann's procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and @entity82 of the muscularis externa. The @entity1 was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying @entity1413 was suspected, and genetic testing revealed a mutation in the collagen type III, a1 ( @entity1414 ) gene, which is consistent with a diagnosis of @entity4243 . CONCLUSIONS: @entity4243 , the vascular type, is a @entity395 caused by mutations in the @entity1414 gene on chromosome 2q31. It is characterized by translucent skin, clubfoot, and the potentially fatal complications of spontaneous large vessel rupture, although spontaneous uterine and colonic perforations have also been reported in the literature. The present case presentation describes the identification of @entity4243 in a @entity1 with a non-spontaneous colonic perforation secondary to an invasive investigation for another @entity74 pre-disposing him to @entity14 . Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in @entity4243 . Alternatives with a lower risk of perforation, such as computed tomographic colonography, need to be considered for @entity1 requiring ongoing @entity14 . Furthermore, management of @entity439 in @entity1 with @entity4243 requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability. Genetic and reproductive counseling should be offered to affected individuals and their families.

Colonoscopic perforation leading to a diagnosis of XXXX : a case report and review of the literature.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'man'] @entity2597 :: ('MESH:D003240', 'Disease') :: ['connective tissue disorder'] @entity82 :: ('MESH:D005355', 'Disease') :: ['fibrosis'] @entity1413 :: ('MESH:D003095', 'Disease') :: ['collagen vascular disorder'] @entity1414 :: ('1281', 'Gene') :: ['COL3A1'] @entity7261 :: ('MESH:D004240', 'Disease') :: ['diverticulosis'] @entity4243 :: ('MESH:D004535', 'Disease') :: ['Ehlers-Danlos syndrome type IV'] @entity439 :: ('MESH:D000783', 'Disease') :: ['vascular aneurysms'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary disorder'] @entity14 :: ('MESH:D015179', 'Disease') :: ['colorectal cancer', 'hereditary non-polyposis colorectal cancer', 'colorectal cancer surveillance'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disorder'] @entity1029 :: ('MESH:D017543', 'Disease') :: ['iliac artery aneurysm'] @entity694 :: ('MESH:D003110', 'Disease') :: ['colonic strictures'] @entity298 :: ('MESH:D010538', 'Disease') :: ['peritonitis']
@entity4243 :: (MESH:D004535,Disease) :: ['Ehlers Danlos syndrome type IV']
