Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

Michele Callea, Roberto Teggi, Izzet Yavuz, Gianluca Tadini, Manuela Priolo, Sergio Crovella, Gabriella Clarich, Domenico Leonardo Grasso

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1801-1804
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume77
Issue number11
DOIs
Publication statusPublished - Nov 2013

Keywords

  • Chronic otitis media
  • Chronic rhinitis
  • Ectodermal dysplasia
  • Hearing loss
  • Hypodontia
  • Hypohidrosis

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Ear nose throat manifestations in hypoidrotic ectodermal dysplasia'. Together they form a unique fingerprint.

Cite this