Quantification of taurodontism: interests in the early diagnosis of hypohidrotic ectodermal dysplasia.
OBJECTIVE
The aim of this study was to provide a quantification of taurodontism in Hypohidrotic Ectodermal Dysplasia (HED) and to report its occurrence in a cohort of HED patients to assess phenotypic-genotypic correlations.


METHODS
Of 68 HED patients retrospectively reviewed, 16 patients aged 7-51 years were selected and compared with a control sample (n = 351). The pulp surface index of the first lower permanent molar was calculated from the panoramic radiograph of each individual, and statistical comparisons between the HED patients and the control sample were performed.


RESULTS
Whatever the genetic disorder, 81.25% of the HED patients exhibited a relative enlargement (>or=1 s.d.) of the pulp. Major deviations (>5 s.d.) were respectively related to men affected by large deletion of the EDA gene or missense mutation. The autosomal recessive form was linked to a relative moderate pulp enlargement (3.44 s.d.). In NEMO forms, the increase of pulp size in men appeared to be less marked than in EDA mutations.


CONCLUSIONS
This study provides for the first time an objective assessment of pulp enlargement in HED patients, and the various degrees of taurodontism depicted could be interesting dental phenotypic markers of HED forms.
Gros
C-I
CI
Faculty of Dentistry, University of Strasbourg, Strasbourg, France. catherineisabelle.gros@chru-strasbourg.fr
Clauss
F
F
Obry
F
F
Manière
M C
MC
Schmittbuhl
M
M
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003786:Dental Pulp Cavity / Q000002:abnormalities* / Q000000981:diagnostic imaging; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D053359:Ectodermal Dysplasia 3, Anhidrotic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D053331:Ectodysplasins / Q000235:genetics; D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008963:Molar / Q000002:abnormalities / Q000000981:diagnostic imaging; D020125:Mutation, Missense; D011859:Radiography; D012189:Retrospective Studies; D017384:Sequence Deletion; D014071:Tooth Abnormalities / Q000209:etiology / Q000235:genetics*; D055815:Young Adult
C506018:EDA protein, human; D053331:Ectodysplasins; C491731:IKBKG protein, human; D051550:I-kappa B Kinase