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. 2025 Jan 23;16(2):129.
doi: 10.3390/genes16020129.

Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review

Valeria Caragli  1 , Laura Luppi  1 , Nicole Carrie Tegmeyer  1 , Elisabetta Genovese  2 , Davide Soloperto  3
Affiliations

Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review

Valeria Caragli et al. Genes (Basel). .

Abstract

Background/objectives: Ichthyosis refers to a group of genetic disorders characterized by extensive scaling of the skin. Syndromic ichthyosis, such as KID syndrome, is associated with mutations in connexin 26, resulting in a triad of keratosis, ichthyosis, and deafness. Cochlear implant (CI) is considered an effective rehabilitation option for severe hearing loss in these patients, though challenges related to skin complications may arise. This study aims to systematically review the existing literature to evaluate the effectiveness of CI in patients with ichthyosis, focusing on auditory and communicative abilities.

Methods: A comprehensive literature search was conducted across PubMed, Scopus, and Web of Science databases according to the PRISMA statement. Studies were included based on the presence of genetically confirmed ichthyosis patients who underwent CI.

Results: A total of 29 studies were identified, of which 11 met the inclusion criteria, encompassing 47 patients. Genetic analysis revealed GJB2 mutations in 40 patients, with a prevalence of the c.148G>A (D50N) mutation. All patients experienced sensorineural hearing loss, predominantly severe to profound. CI was performed in all patients, with significant improvements in speech discrimination and auditory thresholds (89.4%). Complications post-implant were noted in 78.6% of cases, primarily involving wound infections and dehiscence.

Conclusions: Despite the potential for significant complications, the overall outcomes suggest that CI can markedly enhance the quality of life of subjects. Multidisciplinary approaches and careful surgical planning are crucial to managing these patients effectively. Future research should aim for larger sample sizes and extended follow-up periods to further understand CI outcomes in this population.

Keywords: GJB2 mutation; cochlear implant; ichthyosis.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Identification process of the selected studies, according to PRISMA criteria.
See this image and copyright information in PMC

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