{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:09:33Z","timestamp":1790093373054,"version":"4.0.1"},"reference-count":41,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Introduction: Ehlers\u2013Danlos syndromes (EDS) comprise a rare variety of genetic disorders, affecting all types of collagen. Herein, we describe a case of the vascular type of EDS, with coexisting segmental absence of intestinal musculature, while simultaneously performing a narrative review of the existing literature. Case Presentation: A 23-year-old male patient with a history of multiple abdominal operations due to recurrent bowel perforations and the presence of a high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular-type EDS (vEDS) was made and a conservative therapeutic approach was adopted. In addition, a comprehensive review of the international literature was carried out by applying the appropriate search terms. Results: The diagnosis of vEDS was molecularly confirmed by means of genetic testing. The patient was treated conservatively, with parenteral nutrition and supportive methods. Thirty-four cases of bowel perforation in vEDS have been reported so far. Interestingly, this case is the second one ever to report co-existence of vEDS with Segmental Absence of Intestinal Musculature. Conclusions: Establishing the diagnosis of vEDS promptly is of vital significance in order to ensure that patients receive appropriate treatment. Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract.<\/jats:p>","DOI":"10.3390\/jpm13081247","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T10:11:22Z","timestamp":1691662282000},"page":"1247","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Bowel Perforation in Vascular Ehlers\u2013Danlos Syndrome: Case Report and Comprehensive Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4978-1042","authenticated-orcid":false,"given":"Alexandra","family":"Menni","sequence":"first","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1095-8709","authenticated-orcid":false,"given":"Georgios","family":"Tzikos","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Sarafis","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Ververi","sequence":"additional","affiliation":[{"name":"Genetic Unit, 1st Department of Obstetrics & Gynaecology, Aristotle\u2019s University of Thessaloniki, Papageorgiou University Hospital, 56429 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Chatziantoniou","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasileios","family":"Rafailidis","sequence":"additional","affiliation":[{"name":"Department of Radiology, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavros","family":"Panidis","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patroklos","family":"Goulas","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7094-0338","authenticated-orcid":false,"given":"Eleni","family":"Karlafti","sequence":"additional","affiliation":[{"name":"Emergency Department, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54634 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos","family":"Apostolidis","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Giouleme","sequence":"additional","affiliation":[{"name":"2nd Propedeutic Department of Internal Medicine, Aristotle\u2019s University of Thessaloniki, Hippokration University Hospital, 54642 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonios","family":"Michalopoulos","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9787-7391","authenticated-orcid":false,"given":"Daniel","family":"Paramythiotis","sequence":"additional","affiliation":[{"name":"1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle\u2019s University of Thessaloniki, 54636 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"102948","DOI":"10.1016\/j.amsu.2021.102948","article-title":"Total Colectomy in Vascular Ehlers Danlos Syndrome a Case Report and Literature Review","volume":"71","author":"Elhattabi","year":"2021","journal-title":"Ann. 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