International Journal of Pediatric Otorhinolaryngology
Case reportEctodermal dysplasia: the otolaryngologic manifestations and management☆
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Cited by (43)
Influence of Reduced Saliva Production on Phonation in Patients With Ectodermal Dysplasia
2023, Journal of VoiceCitation Excerpt :Moreover, even though not statistically significant, the GGI was slightly increased for EDm (0.05 ± 0.09) to Cm (0.03 ± 0.06), which might be associated to the increased breathiness in the EDm subgroup.46 In line with literature, the evident decrease of saliva production in ED patients (Table 3, Figure 1) insinuated a similar reduction of the laryngeal mucus.35,16 Furthermore, it was reported in numerous studies, that the hydration level of the vocal folds affects the glottal dynamics.47,48
Ear nose throat manifestations in hypoidrotic ectodermal dysplasia
2013, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :Mutations in the IKBKG gene NEMO can cause an heterogeneous group of disorders, including Incontinentia Pigmenti and Hypohidrotic Ectodermal Dysplasia with immunodeficiency associated withosteopetrosis and lymphoedema. Among recent clinical works on ED, few of them focused on upper respiratory and ENT manifestations, although a prevalence of 75% is reported [12–15]. People with ED often have pathognomonic cranial–facial features, often distinctive, including frontal bossing, longer or more pronounced chins and broader nose with depressed nasal bridge [4].
Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes
2012, Annals of Allergy, Asthma and ImmunologyCitation Excerpt :An intact NEMO regulatory protein appears to be critical for both ectodermal development and proper immune function signaling through CD40, interleukin 1 receptor, and Toll-like receptors.2 Previous small studies and case reports have demonstrated an apparent increase in atopic disorders and primary immunodeficiencies (PIDs) among patients with ED syndrome.3,4 NEMO mutations and their resultant dysgammaglobulinemia and altered cellular immune function may be one explanation for this increase.5
Hypohidrotic ectodermal dysplasia presenting as aural and nasal myiasis
2009, International Journal of Pediatric Otorhinolaryngology ExtraFrequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency
2005, Veterinary Immunology and ImmunopathologyEctodysplasin-1 deficiency in a German holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis
2005, Journal of Comparative Pathology
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This paper was presented at the American Society of Pediatric Otolaryngology annual meeting on May 18, 1989.