[Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant].
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.
Neuman-Laniec
Magdalena
M
Klinika Pediatrii Hematologii Onkologii i Endokrynologii AM w Gdańsku.
Wierzba
Jolanta
J
Irga
Ninela
N
Wasilewska
Eliza
E
Balcerska
Anna
A
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
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins