title: Ozena as presenting symptom of a rare and severe genetic disease: hypohidrotic ectodermal dysplasia.
abstract: Ozena is quite a common clinical finding in ENT practice in many countries, but even if the pathological picture is clear, its etiology is unknown. We report on two young females in which ozena was the presenting symptom of a rare and severe genetic disorder (hypohidrotic ectodermal dysplasia, HED). Etiopathogenetic theories on ozena and genetic problems of HED are discussed.
mesh_terms: D000293:Adolescent; D000328:Adult; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007007:Hypohidrosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D012222:Rhinitis, Atrophic / Q000209:etiology* / Q000473:pathology