Martini A, Magnan G, Peserico A
Int J Pediatr Otorhinolaryngol. 1984 Oct;8(1):97-103. doi: 10.1016/s0165-5876(84)80030-0.
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.
臭鼻症在许多国家的耳鼻喉科临床实践中是相当常见的发现，但即便病理表现明确，其病因仍不明。我们报告了两名年轻女性，她们以臭鼻症作为一种罕见且严重的遗传性疾病（少汗性外胚层发育不良，HED）的首发症状。本文讨论了关于臭鼻症的病因发病学理论以及HED的遗传学问题。
