title: Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case.
abstract: The vascular type of Ehlers-Danlos syndrome (vEDS) is a rare inherited disease of the connective tissues, and is caused by abnormal type III collagen resulting from heterogeneous mutations of the type III collagen COL3A1 gene. We herein report the case of a vEDS patient who developed a sigmoid colon perforation and was given a definitive diagnosis by a genetic and biomolecular assay. The patient demonstrated clinical manifestations caused by tissue weakness such as frequent pneumothorax events and a detached retina. During the operation, we noticed easy bruising and thin skin with visible veins on the patient's abdominal wall. Finally, a diagnosis was confirmed by the reduction of type III collagen synthesis and by the identification of a mutation in the gene for type III collagen. We conclude that it is difficult to diagnose a vEDS patient without clinical experiences and specialized genetic methods. Furthermore, all organs must be treated gently during therapy, because the tissues of vEDS patients are extremely fragile.
authors.affiliation: Department of Digestive Surgery, Matsue Red Cross Hospital, 200 Horomachi, Matsue, Shimane, 693-8501, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Omori
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hatamochi
authors.forename: Makoto
authors.initials: M
authors.lastname: Koike
authors.forename: Yoshitoshi
authors.initials: Y
authors.lastname: Sato
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Yasuhito
authors.initials: Y
authors.lastname: Kitakado
authors.forename: Takafumi
authors.initials: T
authors.lastname: Oe
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mukai
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hari
authors.forename: Yoshifumi
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Kenji
authors.initials: K
authors.lastname: Takubo
mesh_terms: D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis; D006801:Humans; D045823:Ileus / Q000209:etiology / Q000601:surgery; D007416:Intestinal Perforation / Q000209:etiology* / Q000601:surgery; D007579:Jejunal Diseases / Q000209:etiology / Q000601:surgery; D008297:Male; D012810:Sigmoid Diseases / Q000209:etiology* / Q000601:surgery; D055815:Young Adult