{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T09:08:37Z","timestamp":1753520917838,"version":"3.37.3"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["surg case rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 58-year-old woman with a familial history of Ehlers-Danlos syndrome visited the emergency department due to a sudden onset of lower abdominal pain. Plain abdominal computed tomography showed abdominal free air. We found a perforated descending colon and subsequently resected this lesion and performed ileostomy. Fifty-one days after this first operation, the patient had transverse colon perforation and thus underwent the Hartmann procedure as the second operation. In addition, she was diagnosed with small bowel perforation 53\u00a0days after the first operation and consequently underwent a third operation\u2014partial resection of the jejunum with functional end-to-end anastomosis. Fifty-eight days after the first operation, she complained of acute abdominal pain. Plain abdominal computed tomography showed fluid collection near the jejunojejunal anastomosis. We detected dehiscence at the entry hole of the linear stapler during the operation and thus performed partial resection of the affected jejunum, followed by jejunostomy. The postoperative course of the fourth operation was uneventful. Genetic testing revealed a novel missense mutation (c.2095G&gt;T, p.Gly699Cys) in the <jats:italic>COL3A1<\/jats:italic> gene, which is presumed to be a pathogenic variant of vascular Ehlers-Danlos syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Vascular Ehlers-Danlos syndrome should be considered in the case of repeated intestinal perforation. The identified missense mutation in the <jats:italic>COL3A1<\/jats:italic> gene (c.2095G&gt;T, p.Gly699Cys) might be a novel pathogenic variation causing vascular Ehlers-Danlos syndrome. Careful postoperative screening and multidisciplinary management are required.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40792-023-01643-6","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T09:02:27Z","timestamp":1683882147000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene"],"prefix":"10.1186","volume":"9","author":[{"given":"Taichi","family":"Horino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Miyamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayuko","family":"Ohuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiro","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoya","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takatoshi","family":"Ishiko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chieko","family":"Kukinaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rumi","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Ohba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4270-7675","authenticated-orcid":false,"given":"Hideo","family":"Baba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,5,12]]},"reference":[{"key":"1643_CR1","doi-asserted-by":"publisher","first-page":"547","DOI":"10.3390\/genes11050547","volume":"11","author":"M Ritelli","year":"2020","unstructured":"Ritelli M, Colombi M. Molecular genetics and pathogenesis of Ehlers-Danlos syndrome and related connective tissue disorders. Genes (Basel). 2020;11:547.","journal-title":"Genes (Basel)"},{"key":"1643_CR2","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/1750-1172-2-32","volume":"2","author":"DP Germain","year":"2007","unstructured":"Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32.","journal-title":"Orphanet J Rare Dis"},{"key":"1643_CR3","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.12659\/AJCR.917245","volume":"20","author":"KY Park","year":"2019","unstructured":"Park KY, Gill KG, Kohler JE. Intestinal perforation in children as an important differential diagnosis of vascular Ehlers-Danlos syndrome. Am J Case Rep. 2019;20:1057\u201362.","journal-title":"Am J Case Rep"},{"key":"1643_CR4","doi-asserted-by":"publisher","DOI":"10.1093\/jscr\/rjac192","volume":"2022","author":"AM Gallagher","year":"2022","unstructured":"Gallagher AM, McGraw TL, Toy FK. Spontaneous small bowel perforation: a rare GI manifestation of type IV Ehlers-Danlos syndrome. J Surg Case Rep. 2022;2022: rjac192.","journal-title":"J Surg Case Rep"},{"key":"1643_CR5","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1038\/gim.2014.72","volume":"16","author":"MG Pepin","year":"2014","unstructured":"Pepin MG, Schwarze U, Rice KM, et al. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med. 2014;16:881\u20138.","journal-title":"Genet Med"},{"key":"1643_CR6","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1186\/s13256-021-03108-6","volume":"15","author":"AE Alotaibi","year":"2021","unstructured":"Alotaibi AE, AlAamer OH, Bawazeer MA, Alzahrani AA. Gastric perforation leading to the diagnosis of classic Ehlers-Danlos syndrome: a case report. J Med Case Rep. 2021;15:537.","journal-title":"J Med Case Rep"},{"key":"1643_CR7","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000000291","volume":"93","author":"R Inokuchi","year":"2014","unstructured":"Inokuchi R, Kurata H, Endo K, et al. Vascular Ehlers-Danlos syndrome without the characteristic facial features: a case report. Medicine. 2014;93: e291.","journal-title":"Medicine"},{"key":"1643_CR8","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","volume":"175","author":"F Malfait","year":"2017","unstructured":"Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175:8\u201326.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1643_CR9","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1002\/ajmg.c.31553","volume":"175","author":"PH Byers","year":"2017","unstructured":"Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175:40\u20137.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1643_CR10","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s10016-001-0229-y","volume":"16","author":"DP Germain","year":"2002","unstructured":"Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2002;16:391\u20137.","journal-title":"Ann Vasc Surg"},{"key":"1643_CR11","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1056\/NEJM200003093421001","volume":"342","author":"M Pepin","year":"2000","unstructured":"Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 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Curr Opin Cardiol. 2011;26:494\u2013501.","journal-title":"Curr Opin Cardiol"}],"container-title":["Surgical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40792-023-01643-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40792-023-01643-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40792-023-01643-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T09:09:47Z","timestamp":1683882587000},"score":1,"resource":{"primary":{"URL":"https:\/\/surgicalcasereports.springeropen.com\/articles\/10.1186\/s40792-023-01643-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,12]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["1643"],"URL":"https:\/\/doi.org\/10.1186\/s40792-023-01643-6","relation":{},"ISSN":["2198-7793"],"issn-type":[{"type":"electronic","value":"2198-7793"}],"subject":[],"published":{"date-parts":[[2023,5,12]]},"assertion":[{"value":"22 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient to publish this Case Report and any accompanying images.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient to publish this Case Report and any accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no potential conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"78"}}