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      Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study

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          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Objective

          Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the COL3A1 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.

          Design

          Prospective case–control study.

          Setting

          Dental surgery department in a French tertiary hospital.

          Participants

          17 consecutive patients with genetically proven vEDS, aged 19–55 years, were compared with 46 age- and sex-matched controls.

          Observations

          Complete oral examination (clinical and radiological) with standardised assessment of periodontal structure, temporomandibular joint function and dental characteristics were performed. COL3A1 mutations were identified by direct sequencing of genomic or complementary DNA.

          Results

          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.

          Conclusions

          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.

          Article summary

          Article focus
          • To provide physicians with an in-depth description of oral involvement of patients with vEDS.

          • To evaluate specificity of gingival recession, a minor diagnostic criterion for vEDSin the Villefranche classification.

          Key messages
          • Prevalence of gingival recession and periodontitis was low among patients with vEDS.

          • Conversely, patients showed marked gingival fragility, temporomandibular joint disorders, dentin formation defects, molar root fusion and increased root length.

          • Several new specific oral signs of this disease were identified, whose combination may be of greater diagnostic value.

          Strengths and limitations of this study
          • All screened patients had genetically confirmed vEDS.

          • Limited sample size, sex ratio imbalance, pre-adult patients were not included. Validation studies are necessary.

          Related collections

          Most cited references 26

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          The Gingival Index, the Plaque Index and the Retention Index Systems.

           H Löe (2015)
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            Research diagnostic criteria for temporomandibular disorders: review, criteria, examinations and specifications, critique.

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              • Record: found
              • Abstract: found
              • Article: not found

              Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

              Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of Ehlers-Danlos syndromes or between Ehlers-Danlos syndromes and other phenotypically related conditions. In addition, elucidation of the molecular basis of several Ehlers-Danlos syndromes has added a new dimension to the characterization of this group of disorders. We propose a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type. Major and minor diagnostic criteria have been defined for each type and complemented whenever possible with laboratory findings. This simplified classification will facilitate an accurate diagnosis of the Ehlers-Danlos syndromes and contribute to the delineation of phenotypically related disorders.
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                Author and article information

                Journal
                BMJ Open
                BMJ Open
                bmjopen
                bmjopen
                BMJ Open
                BMJ Group (BMA House, Tavistock Square, London, WC1H 9JR )
                2044-6055
                2012
                5 April 2012
                5 April 2012
                : 2
                : 2
                Affiliations
                [1 ]A.Chenevier-H.Mondor hospital, Dental department, Créteil, France
                [2 ]Université Paris Descartes, Sorbonne Paris Cité, UMR S872, France
                [3 ]Centre de Recherche des Cordeliers, Université Pierre et Marie Curie, UMR S872, Paris, France
                [4 ]INSERM U872, Paris, France
                [5 ]Centre de Référence des Maladies Vasculaires Rares, HEGP, Paris, France
                [6 ]INSERM U765, Paris, France
                [7 ]INSERM U970, P.A.R.C.C., Paris, France
                Author notes
                Correspondence to Dr François Côme Ferré; ferrefrancois@ 123456hotmail.com
                Article
                bmjopen-2011-000705
                10.1136/bmjopen-2011-000705
                3323826
                22492385
                © 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.

                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: http://creativecommons.org/licenses/by-nc/2.0/ and http://creativecommons.org/licenses/by-nc/2.0/legalcode.

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                Categories
                Dentistry and Oral Medicine
                Research
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                Medicine

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