title: Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.
abstract: BACKGROUND
  Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS).
  
  
  METHODS
  We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia.
  
  
  CONCLUSIONS
  This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark. anne.kroeigaard@rsyd.dk.|Department of Clinical Pathology, Odense University Hospital, Odense, Denmark. anne.kroeigaard@rsyd.dk.
authors.forename: Anne Bruun
authors.initials: AB
authors.lastname: Krøigård
authors.affiliation: Department of Clinical Pathology, Odense University Hospital, Odense, Denmark.
authors.forename: Ole
authors.initials: O
authors.lastname: Clemmensen
authors.affiliation: Department of Maxillofacial Surgery, Center for Oral Health in Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Hans
authors.initials: H
authors.lastname: Gjørup
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark.|Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.affiliation: Department of Clinical Research, University of Southern Denmark, Odense, Denmark.|Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D018126:Odontodysplasia / Q000235:genetics*; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C484142:WNT10A protein, human; D051153:Wnt Proteins
keywords: Ectodermal dysplasia; OODD; Odonto-onycho-dermal dysplasia; Oligodontia; WNT10A gene