Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome

Objective. Evaluation of the auditory manifestations of Keratitis-Ichthyosis-Deafness (EM) syndrome, a rare genodermatosis characterized by follicular hyperkeratosis, vascularizing keratitis, and congenital hearing loss. Study Design: Five individuals with sporadic EM syndrome were evaluated in the outpatient audiology clinic at the Warren Grant Magnuson Clinical Center of the National Institutes of Health. Methods. Audiologic examinations included pure-tone audiometry, speech audiometry, and middle ear immittance testing. Auditory brainstein responses and otoacoustic emissions were analyzed in 2 subjects. Results Four subjects had prelingual, bilateral, profound sensorineural hearing loss, whereas the fifth subject had significant residual hearing that exhibited no progression on serial audiograms. All 5 subjects had a history of nonerosive keratosis obturans and cutaneous cysts in the external ear canals that prevented continuous use of ear molds. Conclusions: The sensorineural hearing loss in KID syndrome is generally prelingual and profound. This combination of auditory and cutaneous phenotypes is similar to those previously reported for MOD syndrome. KID syndrome presents a difficult challenge for communication rehabilitation because keratitis may impair the perception of sign and spoken language, and the cutaneous manifestations routinely curtail use of external amplification devices.