Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

TY - JOUR

T1 - Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

AU - Lexner, Michala O

AU - Bardow, Allan

AU - Hertz, Jens Michael

AU - Almer, Lis Inge

AU - Kreiborg, Sven

N1 - Keywords: Adolescent; Adult; Aged; Anodontia; Biological Markers; Case-Control Studies; Child; Child, Preschool; Dental Models; Ectodermal Dysplasia 1, Anhidrotic; Female; Heterozygote; Humans; Incisor; Male; Middle Aged; Molar; Mutation; Odontometry; Photography, Dental; Radiography, Panoramic; Tooth Abnormalities; Tooth Crown; Tooth Root

PY - 2007

Y1 - 2007

N2 - OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the first to elaborate on anomalies of tooth formation found in a group of hemizygous males and heterozygous females with known ED1 mutations. These tooth anomalies may be used as dental biomarkers for heterozygous females, enabling an earlier diagnosis, and therefore, better treatment and genetic counselling. METHODS: Anomalies of tooth formation were examined using panoramic radiographs, dental casts and oral photographs in hemizygous males and heterozygous females who were identified by molecular genetic analysis. The results were compared to existing controls and normative data. RESULTS: All affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size, especially in the mesiodistal dimension. CONCLUSIONS: We conclude that observed anomalies of tooth formation may be used as dental biomarkers in the clinical identification of potentially heterozygous females.

AB - OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the first to elaborate on anomalies of tooth formation found in a group of hemizygous males and heterozygous females with known ED1 mutations. These tooth anomalies may be used as dental biomarkers for heterozygous females, enabling an earlier diagnosis, and therefore, better treatment and genetic counselling. METHODS: Anomalies of tooth formation were examined using panoramic radiographs, dental casts and oral photographs in hemizygous males and heterozygous females who were identified by molecular genetic analysis. The results were compared to existing controls and normative data. RESULTS: All affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size, especially in the mesiodistal dimension. CONCLUSIONS: We conclude that observed anomalies of tooth formation may be used as dental biomarkers in the clinical identification of potentially heterozygous females.

U2 - 10.1111/j.1365-263X.2006.00801.x

DO - 10.1111/j.1365-263X.2006.00801.x

M3 - Journal article

C2 - 17181574

SN - 0960-7439

VL - 17

SP - 10

EP - 18

JO - International Journal of Paediatric Dentistry

JF - International Journal of Paediatric Dentistry

IS - 1

ER -