{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T04:45:24Z","timestamp":1788410724923,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in\n                    <jats:italic>ADAMTS2<\/jats:italic>\n                    . Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19\u2009years at follow\u2010up. Given the lack of information regarding adults with dEDS, our aim was to describe adults with dEDS to inform management recommendations in adulthood. We report five individuals (2:3 male:female) with an age range of 22\u201342\u2009years. Complications include extreme skin fragility resulting in iatrogenic injury, redundant skin folds often requiring surgical resection, severe complications following a gastric volvulus secondary to a diaphragmatic hernia, and multiple fractures. Discussion of management considerations includes thorough investigations of acute pain, careful consideration of skin closure techniques and manual handling, as well as monitoring for reduced bone mineral density after low\u2010impact fracture and\/or post\u2010menopause.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63957","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T08:14:42Z","timestamp":1733472882000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1952-5865","authenticated-orcid":false,"given":"C.","family":"Angwin","sequence":"first","affiliation":[{"name":"National Ehlers Danlos Syndrome Service London London North West University Healthcare NHS Trust  London UK"},{"name":"Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Byers","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Department of Medicine (Medical Genetics) University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Dulfer","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ghali","sequence":"additional","affiliation":[{"name":"National Ehlers Danlos Syndrome Service London London North West University Healthcare NHS Trust  London UK"},{"name":"Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Harris","sequence":"additional","affiliation":[{"name":"National Ehlers Danlos Syndrome Service London London North West University Healthcare NHS Trust  London UK"},{"name":"Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Hausser","sequence":"additional","affiliation":[{"name":"Institute of Pathology IPH, EM\u2010Lab Heidelberg University Hospital  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"McElroy","sequence":"additional","affiliation":[{"name":"Horae Gene Therapy Center University of Massachusetts Chan Medical School  Worcester Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Sobey","sequence":"additional","affiliation":[{"name":"National Ehlers Danlos Syndrome Service Sheffield Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-169X","authenticated-orcid":false,"given":"F. S.","family":"van Dijk","sequence":"additional","affiliation":[{"name":"National Ehlers Danlos Syndrome Service London London North West University Healthcare NHS Trust  London UK"},{"name":"Genetics and Genomics Section, Department of Metabolism, Digestion and Reproduction Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61523"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32541"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31548"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31550"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022\u2010202X.2004.23406.x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302504"},{"key":"e_1_2_11_8_1","unstructured":"Dalgleish R. andW. K.Teh.2012.\u201cEhlers Danlos Syndrome Variant Database.\u201dhttps:\/\/databases.lovd.nl\/shared\/genes\/ADAMTS2."},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0714.2003.00170.x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<25::AID-AJMG5>3.0.CO;2-X"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-023-00640-4"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.04.013"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010020\u20100194\u20109"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30299"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-214"},{"key":"e_1_2_11_17_1","first-page":"2435","article-title":"Boy With Dermatosparaxis (Ehlers\u2010Danlos Type VIIC)","volume":"144","author":"Pasch M. 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