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Consensus conference on ectodermal dysplasia

Bergendal B
 

Aim

The objective of the consensus conference was to establish diagnostic criteria and propose a comprehensive care programme for the diagnosis hypohidrotic ectodermal dysplasia.

Background

Hypohidrotic ectodermal dysplasia – also called Christ-Siemens-Touraine syndrome – was described in 1848. There are more than 150 different inheritable types of ectodermal dysplasias recognised by the combination of physical features and symptoms an affected person has and the way they are inherited. The diagnosis of an ectodermal dysplasia syndrome is generally set when two or more ectodermal organs are affected. The X-linked hypohidrotic form is the most common of the ED syndromes and has its most typical expression in males. Individuals with hypohidrotic ectodermal dysplasia often have special facial features; agenesis of teeth; dry, thin skin with no or a decreased number of sweat glands; and sparse hair. A reduced number of secretory cells in the gastrointestinal and respiratory tracts can also give rise to symptoms. Decreased salivary secretion rates have recently been described.

Materials and methods

Scandinavian specialists in different odontological disciplines together with clinical geneticists and dermatologists were called as experts to the consensus conference. Before the conference, a Nordic inventory of individuals with hypohidrotic ectodermal dysplasia was made to chart the number of missing teeth.

Results

The inventory resulted in reports on 179 individuals, most of them children and adolescents. This reflects an underdiagnosis in adults which can be explained by the fact that the inventory was performed through specialists in dentistry where adults with this diagnosis do not seem to be represented. A substantial underdiagnosis of the syndrome in all age groups is anticipated. The majority of reported individuals, almost 70%, were boys/men. The numbers of missing teeth varied from 0 to 28 (total anodontia). A general and an oral care programme for individuals with ectodermal dysplasia was worked out which in the year 2000 was adopted by the Swedish ED-association.

Conclusion

It was established as overall principles for treatment that the treatment planning should preferably be made in a multidisciplinary team of specialists and that the patient/family should be involved in the planning process.

Reference: Bergendal B, Koch G, Kurol J, Wänndahl G (eds.): Consensus Conference Consensus Conference on Ectodermal Dysplasia with special reference to dental treatment. Stockholm: Förlagshuset Gothia AB, 1998.

Uppdaterad: 2013-04-03
Anna Thofelt, Avdelningen för odontologisk radiologi Jönköping, Folktandvården