A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

Authors

  • Mathias Tiedemann Svendsen
  • Emil Henningsen
  • Jens Michael Hertz
  • Dorthe Vestergaard Grejsen
  • Anette Bygum

DOI:

https://doi.org/10.2340/00015555-1799

Keywords:

ectodermal dysplasia, retrospective study, mutations, clinical findings.

Abstract

Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994–2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.

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Published

2014-01-21

How to Cite

Tiedemann Svendsen, M., Henningsen, E., Michael Hertz, J., Vestergaard Grejsen, D., & Bygum, A. (2014). A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia. Acta Dermato-Venereologica, 94(5), 531–533. https://doi.org/10.2340/00015555-1799

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Section

Articles