Gil-Carcedo L M
Rhinology. 1982 Dec;20(4):231-5.
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.
本文报告一例极为罕见的无汗性外胚层发育不良病例。该病以外胚层起源结构的紊乱为特征。首先检查了临床特征——少汗、缺牙、毛发稀少——以及遗传特征——家族史、核型。由于额部突出、缺牙和鼻背凹陷的共同作用,患者的面部显得较小,有点类似于先天性梅毒的鞍鼻。从临床、放射学、解剖病理学和超微结构等多个角度对该病例进行了研究。该研究主要集中在鼻腔的异常情况,鼻腔黏膜有明显萎缩。这种萎缩性鼻炎表现出臭鼻症的所有特征:严重结痂、恶臭的绿色分泌物、鼻塞等。