[Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant].

Abstract excerpt

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.

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