Neuman-Laniec Magdalena, Wierzba Jolanta, Irga Ninela, Wasilewska Eliza, Balcerska Anna
Klinika Pediatrii Hematologii Onkologii i Endokrynologii AM w Gdańsku.
Przegl Lek. 2004;61(5):535-7.
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.