Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study
Identifieur interne : 003D56 ( Ncbi/Merge ); précédent : 003D55; suivant : 003D57Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study
Auteurs : François Côme Ferré [France] ; Michael Frank [France] ; Bruno Gogly [France] ; Lisa Golmard [France] ; Adrien Naveau [France] ; Hafida Chérifi [France] ; Joseph Emmerich [France] ; Frédérick Gaultier [France] ; Ariane Berdal [France] ; Xavier Jeunemaitre [France] ; Benjamin P J. Fournier [France]Source :
- BMJ Open [ 2044-6055 ] ; 2012.
Abstract
Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the
Prospective case–control study.
Dental surgery department in a French tertiary hospital.
17 consecutive patients with genetically proven vEDS, aged 19–55 years, were compared with 46 age- and sex-matched controls.
Complete oral examination (clinical and radiological) with standardised assessment of periodontal structure, temporomandibular joint function and dental characteristics were performed.
Prevalence of gingival recession was low among patients with vEDS, as for periodontitis. Conversely, patients showed marked gingival fragility, temporomandibular disorders, dentin formation defects, molar root fusion and increased root length. After logistic regression, three variables remained significantly associated to vEDS. These variables were integrated in a diagnostic oral score with 87.5% and 97% sensitivity and specificity, respectively.
Gingival recession is an inappropriate diagnostic criterion for vEDS. Several new specific oral signs of the disease were identified, whose combination may be of greater value in diagnosing vEDS.
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DOI: 10.1136/bmjopen-2011-000705
PubMed: 22492385
PubMed Central: 3323826
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last="Ferré">François Côme Ferré</name><affiliation wicri:level="3"><nlm:aff id="aff1">A.Chenevier-H.Mondor hospital, Dental department, Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>A.Chenevier-H.Mondor hospital, Dental department, Créteil</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff2">Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, UMR S872</wicri:regionArea><wicri:noRegion>UMR S872</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff4">INSERM U872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Frank, Michael" sort="Frank, Michael" uniqKey="Frank M" 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type="city">Créteil</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff2">Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, UMR S872</wicri:regionArea><wicri:noRegion>UMR S872</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff4">INSERM U872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Golmard, Lisa" sort="Golmard, Lisa" uniqKey="Golmard L" first="Lisa" last="Golmard">Lisa Golmard</name><affiliation wicri:level="3"><nlm:aff id="aff5">Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Naveau, Adrien" sort="Naveau, Adrien" uniqKey="Naveau A" first="Adrien" last="Naveau">Adrien Naveau</name><affiliation wicri:level="3"><nlm:aff id="aff1">A.Chenevier-H.Mondor hospital, Dental department, Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>A.Chenevier-H.Mondor hospital, Dental department, Créteil</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff2">Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, UMR S872</wicri:regionArea><wicri:noRegion>UMR S872</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff4">INSERM U872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Cherifi, Hafida" sort="Cherifi, Hafida" uniqKey="Cherifi H" first="Hafida" last="Chérifi">Hafida Chérifi</name><affiliation wicri:level="3"><nlm:aff id="aff1">A.Chenevier-H.Mondor hospital, Dental department, Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>A.Chenevier-H.Mondor hospital, Dental department, Créteil</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff2">Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, UMR S872</wicri:regionArea><wicri:noRegion>UMR S872</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff4">INSERM U872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Emmerich, Joseph" sort="Emmerich, Joseph" uniqKey="Emmerich J" first="Joseph" last="Emmerich">Joseph Emmerich</name><affiliation wicri:level="3"><nlm:aff id="aff5">Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff6">INSERM U765, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U765, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gaultier, Frederick" sort="Gaultier, Frederick" uniqKey="Gaultier F" first="Frédérick" last="Gaultier">Frédérick Gaultier</name><affiliation wicri:level="3"><nlm:aff id="aff1">A.Chenevier-H.Mondor hospital, Dental department, Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>A.Chenevier-H.Mondor hospital, Dental department, Créteil</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><affiliation wicri:level="4"><nlm:aff id="aff2">Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, UMR S872</wicri:regionArea><wicri:noRegion>UMR S872</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff4">INSERM U872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Jeunemaitre, Xavier" sort="Jeunemaitre, Xavier" uniqKey="Jeunemaitre X" first="Xavier" last="Jeunemaitre">Xavier Jeunemaitre</name><affiliation wicri:level="3"><nlm:aff id="aff5">Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff7">INSERM U970, P.A.R.C.C., Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U970, P.A.R.C.C., Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Fournier, Benjamin P J" sort="Fournier, Benjamin P J" uniqKey="Fournier B" first="Benjamin P J" last="Fournier">Benjamin P J. Fournier</name><affiliation wicri:level="3"><nlm:aff id="aff1">A.Chenevier-H.Mondor hospital, Dental department, Créteil, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>A.Chenevier-H.Mondor hospital, Dental department, Créteil</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Créteil</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff2">Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, UMR S872</wicri:regionArea><wicri:noRegion>UMR S872</wicri:noRegion><orgName type="university">Université Paris-Descartes</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff3">Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></affiliation><affiliation wicri:level="3"><nlm:aff id="aff4">INSERM U872, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM U872, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">BMJ Open</title><idno type="eISSN">2044-6055</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective</title><p>Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the <italic>COL3A1</italic> gene, responsible of vascular, digestive and uterine accidents. Difficulty of clinical diagnosis has led to the design of diagnostic criteria, summarised in the Villefranche classification. The goal was to assess oral features of vEDS. Gingival recession is the only oral sign recognised as a minor diagnostic criterion. The authors aimed to check this assumption since bibliographical search related to gingival recession in vEDS proved scarce.</p></sec><sec><title>Design</title><p>Prospective case–control study.</p></sec><sec><title>Setting</title><p>Dental surgery department in a French tertiary hospital.</p></sec><sec><title>Participants</title><p>17 consecutive patients with genetically proven vEDS, aged 19–55 years, were compared with 46 age- and sex-matched controls.</p></sec><sec><title>Observations</title><p>Complete oral examination (clinical and radiological) with standardised assessment of periodontal structure, temporomandibular joint function and dental characteristics were performed. <italic>COL3A1</italic> mutations were identified by direct sequencing of genomic or complementary DNA.</p></sec><sec><title>Results</title><p>Prevalence of gingival recession was low among patients with vEDS, as for periodontitis. Conversely, patients showed marked gingival fragility, temporomandibular disorders, dentin formation defects, molar root fusion and increased root length. After logistic regression, three variables remained significantly associated to vEDS. These variables were integrated in a diagnostic oral score with 87.5% and 97% sensitivity and specificity, respectively.</p></sec><sec><title>Conclusions</title><p>Gingival recession is an inappropriate diagnostic criterion for vEDS. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">BMJ Open</journal-id><journal-id journal-id-type="iso-abbrev">BMJ Open</journal-id><journal-id journal-id-type="publisher-id">bmjopen</journal-id><journal-id journal-id-type="hwp">bmjopen</journal-id><journal-title-group><journal-title>BMJ Open</journal-title></journal-title-group><issn pub-type="epub">2044-6055</issn><publisher><publisher-name>BMJ Group</publisher-name><publisher-loc>BMA House, Tavistock Square, London, WC1H 9JR</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22492385</article-id><article-id pub-id-type="pmc">3323826</article-id><article-id pub-id-type="publisher-id">bmjopen-2011-000705</article-id><article-id pub-id-type="doi">10.1136/bmjopen-2011-000705</article-id><article-categories><subj-group subj-group-type="heading"><subject>Dentistry and Oral Medicine</subject><subj-group><subject>Research</subject></subj-group></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>1506</subject><subject>1686</subject><subject>1689</subject><subject>1697</subject></subj-group></article-categories><title-group><article-title>Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study</article-title><alt-title alt-title-type="short">Oral phenotype of vascular Ehlers–Danlos syndrome</alt-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Ferré</surname><given-names>François Côme</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Frank</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Gogly</surname><given-names>Bruno</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Golmard</surname><given-names>Lisa</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Naveau</surname><given-names>Adrien</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Chérifi</surname><given-names>Hafida</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Emmerich</surname><given-names>Joseph</given-names></name><xref ref-type="aff" rid="aff5">5</xref><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Gaultier</surname><given-names>Frédérick</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Berdal</surname><given-names>Ariane</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Jeunemaitre</surname><given-names>Xavier</given-names></name><xref ref-type="aff" rid="aff5">5</xref><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Fournier</surname><given-names>Benjamin P J</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib></contrib-group><aff id="aff1"><label>1</label>A.Chenevier-H.Mondor hospital, Dental department, Créteil, France</aff><aff id="aff2"><label>2</label>Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France</aff><aff id="aff3"><label>3</label>Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France</aff><aff id="aff4"><label>4</label>INSERM U872, Paris, France</aff><aff id="aff5"><label>5</label>Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris, France</aff><aff id="aff6"><label>6</label>INSERM U765, Paris, France</aff><aff id="aff7"><label>7</label>INSERM U970, P.A.R.C.C., Paris, France</aff><author-notes><corresp><bold>Correspondence to</bold> Dr François Côme Ferré; <email>ferrefrancois@hotmail.com</email></corresp></author-notes><pub-date pub-type="collection"><year>2012</year></pub-date><pub-date pub-type="epub"><day>5</day><month>4</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>5</day><month>4</month><year>2012</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>2</volume><issue>2</issue><elocation-id>e000705</elocation-id><history><date date-type="received"><day>29</day><month>11</month><year>2011</year></date><date date-type="accepted"><day>28</day><month>2</month><year>2012</year></date></history><permissions><copyright-statement>© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</copyright-statement><copyright-year>2012</copyright-year><license license-type="open-access"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/2.0/">http://creativecommons.org/licenses/by-nc/2.0/</ext-link> and <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/2.0/legalcode">http://creativecommons.org/licenses/by-nc/2.0/legalcode</ext-link>.</license-p></license></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="bmjopen-2011-000705.pdf"></self-uri><self-uri content-type="draft-revisions-pdf" xlink:type="simple" xlink:href="bmjopen-2011-000705.draft_revisions.pdf"></self-uri><self-uri content-type="reviewers-comments-pdf" xlink:type="simple" xlink:href="bmjopen-2011-000705.reviewer_comments.pdf"></self-uri><abstract><sec><title>Objective</title><p>Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the <italic>COL3A1</italic> gene, responsible of vascular, digestive and uterine accidents. Difficulty of clinical diagnosis has led to the design of diagnostic criteria, summarised in the Villefranche classification. The goal was to assess oral features of vEDS. Gingival recession is the only oral sign recognised as a minor diagnostic criterion. The authors aimed to check this assumption since bibliographical search related to gingival recession in vEDS proved scarce.</p></sec><sec><title>Design</title><p>Prospective case–control study.</p></sec><sec><title>Setting</title><p>Dental surgery department in a French tertiary hospital.</p></sec><sec><title>Participants</title><p>17 consecutive patients with genetically proven vEDS, aged 19–55 years, were compared with 46 age- and sex-matched controls.</p></sec><sec><title>Observations</title><p>Complete oral examination (clinical and radiological) with standardised assessment of periodontal structure, temporomandibular joint function and dental characteristics were performed. <italic>COL3A1</italic> mutations were identified by direct sequencing of genomic or complementary DNA.</p></sec><sec><title>Results</title><p>Prevalence of gingival recession was low among patients with vEDS, as for periodontitis. Conversely, patients showed marked gingival fragility, temporomandibular disorders, dentin formation defects, molar root fusion and increased root length. After logistic regression, three variables remained significantly associated to vEDS. These variables were integrated in a diagnostic oral score with 87.5% and 97% sensitivity and specificity, respectively.</p></sec><sec><title>Conclusions</title><p>Gingival recession is an inappropriate diagnostic criterion for vEDS. Several new specific oral signs of the disease were identified, whose combination may be of greater value in diagnosing vEDS.</p></sec></abstract><abstract abstract-type="summary"><title>Article summary</title><sec><title>Article focus</title><list list-type="bullet"><list-item><p>To provide physicians with an in-depth description of oral involvement of patients with vEDS.</p></list-item><list-item><p>To evaluate specificity of gingival recession, a minor diagnostic criterion for vEDSin the Villefranche classification.</p></list-item></list></sec><sec><title>Key messages</title><list list-type="bullet"><list-item><p>Prevalence of gingival recession and periodontitis was low among patients with vEDS.</p></list-item><list-item><p>Conversely, patients showed marked gingival fragility, temporomandibular joint disorders, dentin formation defects, molar root fusion and increased root length.</p></list-item><list-item><p>Several new specific oral signs of this disease were identified, whose combination may be of greater diagnostic value.</p></list-item></list></sec><sec><title>Strengths and limitations of this study</title><list list-type="bullet"><list-item><p>All screened patients had genetically confirmed vEDS.</p></list-item><list-item><p>Limited sample size, sex ratio imbalance, pre-adult patients were not included. Validation studies are necessary.</p></list-item></list></sec></abstract></article-meta></front></pmc><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Créteil</li><li>Paris</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université Pierre-et-Marie-Curie</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Ferre, Francois Come" sort="Ferre, Francois Come" uniqKey="Ferre F" first="François Côme" last="Ferré">François Côme Ferré</name></region><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><name sortKey="Berdal, Ariane" sort="Berdal, Ariane" uniqKey="Berdal A" first="Ariane" last="Berdal">Ariane Berdal</name><name sortKey="Cherifi, Hafida" sort="Cherifi, Hafida" uniqKey="Cherifi H" first="Hafida" last="Chérifi">Hafida Chérifi</name><name sortKey="Cherifi, Hafida" sort="Cherifi, Hafida" uniqKey="Cherifi H" first="Hafida" last="Chérifi">Hafida Chérifi</name><name sortKey="Cherifi, Hafida" sort="Cherifi, Hafida" uniqKey="Cherifi H" first="Hafida" last="Chérifi">Hafida Chérifi</name><name sortKey="Cherifi, Hafida" sort="Cherifi, Hafida" uniqKey="Cherifi H" first="Hafida" last="Chérifi">Hafida Chérifi</name><name sortKey="Emmerich, Joseph" sort="Emmerich, Joseph" uniqKey="Emmerich J" first="Joseph" last="Emmerich">Joseph Emmerich</name><name sortKey="Emmerich, Joseph" sort="Emmerich, Joseph" uniqKey="Emmerich J" first="Joseph" last="Emmerich">Joseph Emmerich</name><name sortKey="Ferre, Francois Come" sort="Ferre, Francois Come" uniqKey="Ferre F" first="François Côme" last="Ferré">François Côme Ferré</name><name sortKey="Ferre, Francois Come" sort="Ferre, Francois Come" uniqKey="Ferre F" first="François Côme" last="Ferré">François Côme Ferré</name><name sortKey="Ferre, Francois Come" sort="Ferre, Francois Come" uniqKey="Ferre F" first="François Côme" last="Ferré">François Côme Ferré</name><name sortKey="Fournier, Benjamin P J" sort="Fournier, Benjamin P J" uniqKey="Fournier B" first="Benjamin P J" last="Fournier">Benjamin P J. Fournier</name><name sortKey="Fournier, Benjamin P J" sort="Fournier, Benjamin P J" uniqKey="Fournier B" first="Benjamin P J" last="Fournier">Benjamin P J. Fournier</name><name sortKey="Fournier, Benjamin P J" sort="Fournier, Benjamin P J" uniqKey="Fournier B" first="Benjamin P J" last="Fournier">Benjamin P J. Fournier</name><name sortKey="Fournier, Benjamin P J" sort="Fournier, Benjamin P J" uniqKey="Fournier B" first="Benjamin P J" last="Fournier">Benjamin P J. Fournier</name><name sortKey="Frank, Michael" sort="Frank, Michael" uniqKey="Frank M" first="Michael" last="Frank">Michael Frank</name><name sortKey="Gaultier, Frederick" sort="Gaultier, Frederick" uniqKey="Gaultier F" first="Frédérick" last="Gaultier">Frédérick Gaultier</name><name sortKey="Gogly, Bruno" sort="Gogly, Bruno" uniqKey="Gogly B" first="Bruno" last="Gogly">Bruno Gogly</name><name sortKey="Gogly, Bruno" sort="Gogly, Bruno" uniqKey="Gogly B" first="Bruno" last="Gogly">Bruno Gogly</name><name sortKey="Gogly, Bruno" sort="Gogly, Bruno" uniqKey="Gogly B" first="Bruno" last="Gogly">Bruno Gogly</name><name sortKey="Gogly, Bruno" sort="Gogly, Bruno" uniqKey="Gogly B" first="Bruno" last="Gogly">Bruno Gogly</name><name sortKey="Golmard, Lisa" sort="Golmard, Lisa" uniqKey="Golmard L" first="Lisa" last="Golmard">Lisa Golmard</name><name sortKey="Jeunemaitre, Xavier" sort="Jeunemaitre, Xavier" uniqKey="Jeunemaitre X" first="Xavier" last="Jeunemaitre">Xavier Jeunemaitre</name><name sortKey="Jeunemaitre, Xavier" sort="Jeunemaitre, Xavier" uniqKey="Jeunemaitre X" first="Xavier" last="Jeunemaitre">Xavier Jeunemaitre</name><name sortKey="Naveau, Adrien" sort="Naveau, Adrien" uniqKey="Naveau A" first="Adrien" last="Naveau">Adrien Naveau</name><name sortKey="Naveau, Adrien" sort="Naveau, Adrien" uniqKey="Naveau A" first="Adrien" last="Naveau">Adrien Naveau</name><name sortKey="Naveau, Adrien" sort="Naveau, Adrien" uniqKey="Naveau A" first="Adrien" last="Naveau">Adrien Naveau</name><name sortKey="Naveau, Adrien" sort="Naveau, Adrien" uniqKey="Naveau A" first="Adrien" last="Naveau">Adrien Naveau</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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