Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene

Abstract Background Ehlers-Danlos syndrome is an inherited connective-tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Intestinal perforation is one of the fatal manifestations of this syndrome, and its management is complicated. Case presentation...

Full description

Saved in:
Bibliographic Details
Main Authors: Taichi Horino, Yuji Miyamoto, Mayuko Ohuchi, Katsuhiro Ogawa, Naoya Yoshida, Takatoshi Ishiko, Chieko Kukinaka, Rumi Sasaki, Takashi Ohba, Hideo Baba
Format: Article
Language:English
Published: Japan Surgical Society 2023-05-01
Series:Surgical Case Reports
Subjects:
Ehlers-Danlos syndrome
Autosomal dominant
Intestinal perforation
Online Access:https://doi.org/10.1186/s40792-023-01643-6
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items