Otologic manifestations of ectodermal dysplasia.
OBJECTIVE
To determine the range and prevalence of otologic disorders in patients with ectodermal dysplasia (ED) and provide a general review of its multiple otolaryngological manifestations.


METHODS
Case series.


METHODS
Ectodermal dysplasia family conference.


METHODS
Sixty-nine individuals with ED were evaluated. The average age was 11 years (range, 1-56 years). Most were male patients (44 [64%]), and most had Christ-Siemens-Touraine syndrome/hypohidrotic ED (42 [61%]), with the remaining having Hay-Wells, Clouston, and ectrodactyly ED clefting syndromes and unclassified types of ED.


METHODS
Questionnaire including a quality-of-life assessment modeled after the Otitis Media 6 instrument, physical examination, screening audiogram, and tympanometry.


RESULTS
Of the 69 patients, 15 (22%) had a known history of hearing loss, and over half reported some level of difficulty processing verbal information (30 patients [43%] reported speech problems and 4 patients [6%] required hearing aids). A history of otitis media was common, with 15 patients (21%) presenting with tympanostomy tubes in place. The mean +/- SD quality-of-life rating was 2.0 +/- 1.1 (range 1-7), with lower scores suggesting less of a problem. On physical examination, 18 patients (26%) had pinna anomalies. One case of advanced cholesteatoma and 2 cases of external auditory canal stenosis were identified. Of the 24 patients who received 4-tone screening audiogram, 2 (8%) had a highest pure-tone average threshold of 50 to 65 dB, whereas 5 patients (21%) had a 30- to 45-dB threshold, with the remaining having a 0- to 25-dB threshold.


CONCLUSIONS
In our study, which is, to our knowledge, the largest reported collection of ED patients evaluated for otologic disease, most patients were found to have 1 or more otologic abnormalities, ranging from auricular anomaly to complications of otitis media to profound hearing loss.
Shin
Jennifer J
JJ
Harvard Program in Otolaryngology-Head and Neck Surgery, Department of Pediatric Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
Hartnick
Christopher J
CJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities* / Q000254:growth & development; D004427:Ear Diseases / Q000453:epidemiology / Q000209:etiology*; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D034381:Hearing Loss / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010033:Otitis Media / Q000453:epidemiology / Q000209:etiology; D011446:Prospective Studies; D011788:Quality of Life; D014481:United States / Q000453:epidemiology