Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study
Identifieur interne : 003111 ( Main/Curation ); précédent : 003110; suivant : 003112Oral 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.
Url:
DOI: 10.1136/bmjopen-2011-000705
PubMed: 22492385
PubMed Central: 3323826
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PMC:3323826Le document en format XML
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<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="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. Several new specific oral signs of the disease were identified, whose combination may be of greater value in diagnosing vEDS.</p>
</sec>
</div>
</front>
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</analytic>
</biblStruct>
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