title: Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
abstract: OBJECTIVE
  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) causes multiple endocrine deficiencies, oral candidiasis and different forms of ectodermal dystrophy including enamel hypoplasia, documented in permanent teeth. Our purpose was to examine dental aberrations associated with APECED, including possible manifestations in primary teeth.
  
  
  METHODS
  We studied clinically, radiographically, and by scanning electron microscopy (SEM) teeth of children belonging to two APECED families with different mutations in the AIRE gene.
  
  
  RESULTS
  In addition to enamel defects in the permanent teeth we observed hypoplastic pits and hypomaturated patches in the deciduous teeth with underlying changes in the prismatic ultrastructure. The enamel of the permanent molars exhibited a layered arrangement with included whirl-like formations.
  
  
  CONCLUSIONS
  Our findings confirm that APECED causes enamel defects that are individually but chronologically distributed, and can alter enamel development early enough to affect deciduous teeth.
authors.affiliation: Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia. alenka.pavlic@mf.uni-lj.si
authors.forename: Alenka
authors.initials: A
authors.lastname: Pavlic
authors.forename: Janna
authors.initials: J
authors.lastname: Waltimo-Sirén
mesh_terms: D000293:Adolescent; D000566:Amelogenesis / Q000235:genetics; D002648:Child; D003596:Cytosine; D004268:DNA-Binding Proteins / Q000235:genetics; D003743:Dental Enamel / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000648:ultrastructure; D003744:Dental Enamel Hypoplasia / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D008855:Microscopy, Electron, Scanning; D009154:Mutation / Q000235:genetics; D016884:Polyendocrinopathies, Autoimmune / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D013941:Thymine; D017001:Tooth Demineralization / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D014094:Tooth, Deciduous / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000648:ultrastructure; D014157:Transcription Factors / Q000235:genetics; D016335:Zinc Fingers / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D003596:Cytosine; D004268:DNA-Binding Proteins; D013941:Thymine; D014157:Transcription Factors; D000096927:AIRE Protein