{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:30:28Z","timestamp":1790796628947,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,9,4]],"date-time":"2017-09-04T00:00:00Z","timestamp":1504483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>Classical Ehlers\u2010Danlos syndrome (<jats:styled-content style=\"fixed-case\">cEDS<\/jats:styled-content>) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow\u2010chart that prompts molecular testing is still based on experts\u2019 opinion rather than systematic published data. Here we report on 62 molecularly characterized <jats:styled-content style=\"fixed-case\">cEDS<\/jats:styled-content> patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface\/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of \u22651 eye dysmorphism and facial\/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults.<\/jats:p>","DOI":"10.1111\/cge.13052","type":"journal-article","created":{"date-parts":[[2017,5,9]],"date-time":"2017-05-09T12:56:40Z","timestamp":1494334600000},"page":"624-631","source":"Crossref","is-referenced-by-count":30,"title":["Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers\u2010Danlos syndrome patients"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3105-5990","authenticated-orcid":false,"given":"M.","family":"Colombi","sequence":"first","affiliation":[{"name":"Division of Biology and Genetics, Department of Molecular and Translational Medicine School of Medicine, University of Brescia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dordoni","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Molecular and Translational Medicine School of Medicine, University of Brescia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Venturini","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Clinical and Experimental Sciences Spedali Civili University Hospital  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Ciaccio","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Molecular and Translational Medicine School of Medicine, University of Brescia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Morlino","sequence":"additional","affiliation":[{"name":"Division\/Laboratory of Medical Genetics Department of Molecular Medicine, Sapienza University, San Camillo\u2010Forlanini Hospital  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Chiarelli","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Molecular and Translational Medicine School of Medicine, University of Brescia  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Zanca","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Clinical and Experimental Sciences Spedali Civili University Hospital  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Calzavara\u2010Pinton","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Clinical and Experimental Sciences Spedali Civili University Hospital  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