Frequency of ear symptoms and hearing loss in ichthyosis: a pilot survey study.

Ichthyoses comprise a heterogeneous array of skin conditions resulting from impairment of cornification. Although ear structures can be affected, ear-related symptoms have never been investigated in patients with ichthyosis. In this pilot survey study, our aim was to determine the frequency of ear symptoms, hearing loss, and related medical interventions in patients with ichthyosis. Our secondary aim was to compare the frequency of these items according to age group. An online survey using Redcap was developed and posted online on the Foundation for Ichthyosis and Related Skin Types website for 6 months. Patients or parents of patients with ichthyosis were asked to complete the survey. Data analysis excluded patients with keratitis-ichthyosis-deafness syndrome and surveys that had fewer than two completed items. One hundred thirty-five unique surveys were used for data analysis. Of all participants, 80% reported ear pruritus, 66% reported trouble hearing, 29% reported frequent ear pain, 28% had abnormal hearing test results, and 16% had used hearing aids. Of the 88 participants who reported trouble hearing, 24 (27.3%) had never been to a hearing specialist. Significantly more participants older than 18 years of age (74%, 57/77) reported trouble hearing than participants age 18 years and younger (53%, 31/58; p = 0.02). The frequencies of other ear symptoms and hearing loss were not statistically significantly different between the age groups. Ear pruritus, ear pain, and hearing loss are important concerns in patients with all forms of ichthyosis in all age groups. Early diagnosis and intervention may improve the quality of life of patients with ichthyosis.

Clinical experience in diagnosis and management of superior semicircular canal dehiscence in children.

OBJECTIVES/HYPOTHESIS: To identify clinical characteristics of pediatric superior semicircular canal dehiscence (SSCD) and explore suitable options of management. STUDY DESIGN: Retrospective review. METHODS: The study comprised 10 patients with auditory and/or vestibular symptoms suspicious for SSCD. One patient pursued care at another institution, and two did not return for follow-up. Subsequently, seven patients (11 ears, 6 females and 1 male, aged 5-11 years) were included. Patients were evaluated using high-resolution temporal bone computed tomography. Those suspected of having SSCD underwent vestibular evoked myogenic potential testing for confirmation in addition to routine audiologic tests. RESULTS: All seven patients had auditory and/or vestibular impairment. Auditory symptoms included autophony, tinnitus, and conductive or mixed hearing loss. Bone conduction responses were occasionally better than 0 dB HL. Vestibular dysfunction included vertigo, often in response to loud noises, and chronic disequilibrium. One patient underwent surgical repair for disabling vestibular symptoms with dramatic improvement in both auditory and vestibular symptoms postoperatively. The remaining six were closely monitored with routine exams. CONCLUSIONS: In contrast to adults, children with SSCD usually present with auditory symptoms first, although they share some similarities with adults in clinical manifestations of SSCD. Our study shows that SSCD syndrome, a well-accepted clinical entity, exists in the pediatric population. Conservative management is preferred for children with SSCD; nevertheless, surgical intervention is necessary for those with disabling vestibular symptoms. To date, this is the first clinical case series of symptomatic pediatric patients with SSCD.

Superior semicircular canal dehiscence in a young child: implication of developmental defect.

In recent years, superior semicircular canal dehiscence (SSCD) has been recognized as a structural cause of a number of auditory and vestibular symptoms, such as vertigo and conductive hearing loss. Prior clinical studies on SSCD have commonly described this entity in adults, but rarely in the pediatric population. We present a pediatric patient with right-sided SSCD which was initially diagnosed radiographically at age seven. This rare and unique case demonstrated SSCD can be found in young children, although the majority of patients with SSCD are adults. It also provides strong evidence that canal dehiscence may be a developmental defect.