Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.
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.
Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy. Electronic address: mcallea@gmail.com.
Michele
M
Callea
Roberto
R
Teggi
Izzet
I
Yavuz
Gianluca
G
Tadini
Manuela
M
Priolo
Sergio
S
Crovella
Gabriella
G
Clarich
Domenico Leonardo
DL
Grasso
D000848:Anodontia / Q000453:epidemiology*; D015984:Causality; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000453:epidemiology*; D005260:Female; D034381:Hearing Loss / Q000453:epidemiology; D006801:Humans; D007007:Hypohidrosis / Q000453:epidemiology*; D015994:Incidence; D007223:Infant; D008297:Male; D010033:Otitis Media / Q000453:epidemiology; D010038:Otorhinolaryngologic Diseases / Q000453:epidemiology* / Q000503:physiopathology; D011379:Prognosis; D035583:Rare Diseases; D006255:Rhinitis, Allergic, Seasonal / Q000453:epidemiology; D018570:Risk Assessment
Chronic otitis media; Chronic rhinitis; Ectodermal dysplasia; Hearing loss; Hypodontia; Hypohidrosis