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Jennifer J. Shin, MD; Christopher J. Hartnick, MD, MS (Epi)

Arch Otolaryngol Head Neck Surg. 2004;130:1104-1107.

Objectives  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.

Design  Case series.

Setting  Ectodermal dysplasia family conference.

Patients  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.

Interventions  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.

Conclusion  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.

From the Harvard Program in Otolaryngology–Head and Neck Surgery (Dr Shin), Department of Pediatric Otolaryngology (Dr Hartnick), Massachusetts Eye and Ear Infirmary, Boston. The authors have no relevant financial interest in this article.