title: [Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant].
abstract: The X-linked anhydrotic ectodermal dysplasia is a rare disease in which defects in development of ectodermal derivatives are observed. This syndrome is clinically characterized by total or partial anodontia, characteristic physionomy and absent or reduced sweating. Recurrent fever was a clue to the disease diagnosis in 5 month old infant. The diagnosis was confirmed by the mutation of EDA exon 9.
authors.affiliation: Klinika Pediatrii Hematologii Onkologii i Endokrynologii AM w Gdańsku.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Neuman-Laniec
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wierzba
authors.forename: Ninela
authors.initials: N
authors.lastname: Irga
authors.forename: Eliza
authors.initials: E
authors.lastname: Wasilewska
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerska
mesh_terms: D000848:Anodontia / Q000209:etiology; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis*; D053331:Ectodysplasins; D005334:Fever / Q000209:etiology*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins