title: A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
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.
authors: Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark. m_tiedemann@hotmail.com.
authors: Mathias
authors: 0000-0002-4317-0873
authors: T
authors: Svendsen
authors: Emil
authors: E
authors: Henningsen
authors: Jens Michael
authors: JM
authors: Hertz
authors: Dorthe
authors: D
authors: Vestergaard Grejsen
authors: Anette
authors: A
authors: Bygum
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003718:Denmark; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics; D053339:Edar Receptor / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C506018:EDA protein, human; C506008:EDAR protein, human; D053331:Ectodysplasins; D053339:Edar Receptor