The nose in anhidrotic ectodermal dysplasia.
A case is presented of anhidrotic ectodermal dysplasia, of extreme rarity. This is distinguished by disorders in the structures of ectodermal origin. The clinical characteristics--hypohidrosis, hypodontia, hypotrichosis-, and the genetic features--genealogy, karyotype--are examined first. The patient's face appears to be small, due to the combination of frontal bossing, hypodontia, and a depressed nasal dorsum, somewhat resembling the saddle nose of congenital syphilis. The case is studied from various perspectives: clinical, radiological, anatomicopathological and ultrastructural. The study concentrates principally on the anomalies of the nasal cavities, where there is a notable atrophy of the nasal mucosa. This atrophic rhinitis displays all the features of ozaena: severe crusting, fetid green secretion, nasal obstruction, etc.
D000848:Anodontia / Q000473:pathology; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000473:pathology*; D006801:Humans; D007007:Hypohidrosis / Q000473:pathology; D008297:Male; D009296:Nasal Cavity / Q000002:abnormalities*; D009297:Nasal Mucosa / Q000002:abnormalities