Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children

Actas Dermosifiliogr. 2015 Nov;106(9):733-9. doi: 10.1016/j.ad.2015.06.003. Epub 2015 Jul 21.
[Article in English, Spanish]

Abstract

Background: Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI).

Objectives: To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital.

Materials and methods: We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, cerumen impaction, accumulation of epithelial debris, and hearing loss. Daily hygiene measures, topical treatments, medical-surgical interventions, and frequency of visits to an ear, nose, and throat (ENT) specialist were noted in the patients' medical records. Ear examination and hearing tests were performed in all cases.

Results: Ten patients were studied: 2 had a self-healing collodion baby phenotype and 8 had ichthyosis. There was mention of otologic manifestations in the records of all 8 patients with ichthyosis (100%); 6 of these patients (75%) had abnormalities in the external auditory canal examination and 2 (25%) had conductive hearing loss. Our findings are limited by the small number of patients studied, all of whom were younger than 19 years.

Conclusions: The involvement of both dermatologists and ENT specialists in the management of patients with ichthyosis is crucial to ensure the application of the best therapeutic and preventive measures. More studies are needed to assess the prevalence and impact on quality of life of ear involvement in patients with ichthyosis and to determine the optimal interval between ENT visits for these patients.

Keywords: Deafness; Ear, nose and throat; Hearing loss; Hipoacusia; Ichthyosis; Ictiosis; Otological; Otológicas; Otorrinolaringología; Sordera.

MeSH terms

  • Adolescent
  • Cerumen / metabolism
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Deafness / congenital
  • Deafness / genetics
  • Dermatology
  • Ear Canal / abnormalities
  • Ear Diseases / congenital
  • Ear Diseases / genetics*
  • Ear Diseases / therapy
  • Earache / etiology
  • Female
  • Genes, Recessive
  • Hearing Loss, Conductive / congenital
  • Hearing Loss, Conductive / genetics
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Infant
  • Male
  • Otolaryngology
  • Patient Care Team
  • Phenotype
  • Prospective Studies
  • Tinnitus / etiology