[Congenital anhidrotic ectodermal dysplasia in a female infant].
Fever of unknown origin, unability to sweat, hypotrichosis, absent eyebrows and thick everted lips were symptoms in a 3 month old female infant and raised the suspicion of anhidrotic ectodermal dysplasia. After several days of high fever and enteritis our patient presented with convulsions which could hardly be interrupted for a couple of days. Two months later brain scanning revealed serious brain damage. Finally the diagnosis of anhidrotic ectodermal dysplasia was confirmed by the unability to sweat by means of the quantitative pilocarpin iontophoresis test. Skin biopsy showed absence of the eccrine glands.
Riedler
J
J
Kinderspital der Landeskrankenanstalten Salzburg.
D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D012867:Skin / Q000473:pathology; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics
Kongenitale anhidrotische Ektodermaldysplasie bei einem weiblichen Säugling.