Ear nose throat manifestations in hypoidrotic ectodermal dysplasia |
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| Authors: | Michele Callea Roberto Teggi Izzet Yavuz Gianluca Tadini Manuela Priolo Sergio Crovella Gabriella Clarich Domenico Leonardo Grasso |
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| Institution: | 1. Institute for Maternal and Child Health – IRCCS Burlo Garofolo, Trieste, Italy;2. San Raffaele Scientific Institute, Milan, Italy;3. Department of Pediatric Dentistry, Faculty of Dentistry, University of Dicle, 21280 Diyarbakir, Turkey;4. Center for Inherited Cutaneous Diseases, Department of Pediatric Dermatology, Fondazione IRCCS Ca’ Granda – Ospedale Maggiore Policlinico, University of Milan, Milan, Italy;5. Department of Pediatric Clinic 1, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy;6. UOC Genetica Medica Azienda Ospedaliera Bianchi-Melacrino-Morelli, V Melacrino, 89100 Reggio Calabria, Italy;g University of Trieste, Trieste, Italy |
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| 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. |
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| Keywords: | Ectodermal dysplasia Hypohidrosis Chronic rhinitis Chronic otitis media Hearing loss Hypodontia |
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