title: Spontaneous colon perforations associated with a vascular type of ehlers-danlos syndrome.
abstract: Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp).
authors.affiliation: Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Yoneda
authors.affiliation: Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
authors.forename: Kazuya
authors.initials: K
authors.lastname: Okada
authors.affiliation: Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Okubo
authors.affiliation: Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
authors.forename: Mitsutoshi
authors.initials: M
authors.lastname: Matsuo
authors.affiliation: Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kishikawa
authors.affiliation: Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
authors.forename: Banyar Than
authors.initials: BT
authors.lastname: Naing
authors.affiliation: Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Watanabe
authors.affiliation: Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimada
keywords: Connective tissue; Ehlers-Danlos syndrome; Spontaneous colonic perforations