RT Journal Article
SR Electronic
T1 Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study
JF BMJ Open
JO BMJ Open
FD British Medical Journal Publishing Group
SP e000705
DO 10.1136/bmjopen-2011-000705
VO 2
IS 2
A1 Ferré, François Côme
A1 Frank, Michael
A1 Gogly, Bruno
A1 Golmard, Lisa
A1 Naveau, Adrien
A1 Chérifi, Hafida
A1 Emmerich, Joseph
A1 Gaultier, Frédérick
A1 Berdal, Ariane
A1 Jeunemaitre, Xavier
A1 Fournier, Benjamin P J
YR 2012
UL http://bmjopen.bmj.com/content/2/2/e000705.abstract
AB 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.