title: Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
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.
  
  
  METHODS
  Prospective case-control study.
  
  
  METHODS
  Dental surgery department in a French tertiary hospital.
  
  
  METHODS
  17 consecutive patients with genetically proven vEDS, aged 19-55 years, were compared with 46 age- and sex-matched controls.
  
  
  METHODS
  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.
authors.affiliation: A.Chenevier-H.Mondor hospital, Dental department, Créteil, France.
authors.forename: François Côme
authors.initials: FC
authors.lastname: Ferré
authors.forename: Michael
authors.initials: M
authors.lastname: Frank
authors.forename: Bruno
authors.initials: B
authors.lastname: Gogly
authors.forename: Lisa
authors.initials: L
authors.lastname: Golmard
authors.forename: Adrien
authors.initials: A
authors.lastname: Naveau
authors.forename: Hafida
authors.initials: H
authors.lastname: Chérifi
authors.forename: Joseph
authors.initials: J
authors.lastname: Emmerich
authors.forename: Frédérick
authors.initials: F
authors.lastname: Gaultier
authors.forename: Ariane
authors.initials: A
authors.lastname: Berdal
authors.forename: Xavier
authors.initials: X
authors.lastname: Jeunemaitre
authors.forename: Benjamin P J
authors.initials: BP
authors.lastname: Fournier