Otologic manifestations of ectodermal dysplasia.

Abstract

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.

• Authors: Jennifer J Shin, Christopher J Hartnick
• Journal: Archives of otolaryngology--head & neck surgery (Arch Otolaryngol Head Neck Surg) Vol. 130 Issue 9 Pg. 1104-7 (Sep 2004) ISSN: 0886-4470 [Print] United States
• PMID: 15381599 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Ear (abnormalities, growth & development)
• Ear Diseases (epidemiology, etiology)
• Ectodermal Dysplasia (complications)
• Female
• Hearing Loss (epidemiology, etiology)
• Humans
• Infant
• Male
• Middle Aged
• Otitis Media (epidemiology, etiology)
• Prospective Studies
• Quality of Life
• United States (epidemiology)