Callea Michele, Teggi Roberto, Yavuz Izzet, Tadini Gianluca, Priolo Manuela, Crovella Sergio, Clarich Gabriella, Grasso Domenico Leonardo
Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Int J Pediatr Otorhinolaryngol. 2013 Nov;77(11):1801-4. doi: 10.1016/j.ijporl.2013.09.004. Epub 2013 Sep 13.
The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal-mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands. We report Ear Nose Throat manifestations of ED, linked to the reduction of mucous glands in the nasal fossae with reduced ciliar function, and decrease salivary glands function. Often patients report an increased rate of infections of the upper respiratory tract and of the ear. Nasal obstruction due to the presence of nasal crusting, hearing loss and throat hoarseness are the most represented symptoms. Environmental measures, including a correct air temperature and humidification, is mandatory above all in subjects affected by hypohidrotic form.
外胚层发育不良（EDs）是一大类复杂的遗传性疾病。它们以各种组合形式出现，都具有外胚层衍生结构的异常：毛发、牙齿、指甲和汗腺功能。外胚层发育不良之间存在临床重叠。迄今为止，已确定的致病基因很少。基因表达的改变不仅限于外胚层，还会对发育中的间充质结构产生伴随影响，同时改变外胚层-间充质信号传导。外胚层发育不良的两大主要类型包括出汗型和少汗型，后者更为常见；它们因汗腺的有无而相互区分。我们报告了外胚层发育不良的耳鼻喉表现，这与鼻窝黏液腺减少及纤毛功能降低以及唾液腺功能减退有关。患者常报告上呼吸道和耳部感染率增加。鼻痂导致的鼻塞、听力损失和喉咙嘶哑是最常见的症状。环境措施，包括合适的气温和湿度，对于少汗型患者尤为重要。
