The genetics of cholesteatoma. A systematic review using narrative synthesis

Barbara A. Jennings, Peter Prinsley, Carl Philpott, Gavin Willis, Mahmoud F Bhutta

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Objective: A cholesteatoma is a mass of keratinising epithelium in the middle ear. It is a rare disorder that is associated with significant morbidity, and its causative risk factors are poorly understood; on a global scale up to a million people are affected by this each year. We have conducted a systematic literature review to identify reports about the heritability of cholesteatoma or any constitutional genetic factors that may be associated with its aetiology.

Data Sources: A systematic search of MEDLINE (EBSCO) and 2 databases of curated genetic research (OMIM and Phenopedia) was conducted.

Study Selection: The participants and populations of interest for this review were people treated for cholesteatoma and their family members. The studies of interest reported evidence of heritability for the trait, or any association with congenital syndromes and particular genetic variants.

Data Extraction: The searches identified 449 unique studies, of which 35 were included in the final narrative synthesis.

Data Synthesis: A narrative synthesis was conducted and data were tabulated to record characteristics, including study design; genetic data; and author conclusions. Most of the studies identified in the literature search, and described here, are case reports and so represent the lowest level of evidence. In a few case-reports, congenital and acquired cholesteatoma have been shown to segregate within families in the pattern typical of a monogenic or oligogenic
disorder with incomplete penetrance. Evidence from syndromic cases could suggest that genes controlling ear morphology may be risk factors for cholesteatoma formation.

Conclusions: This is the first systematic review about the genetics of cholesteatoma; and we have identified a small body of relevant literature that provides evidence of a heritable component for its aetiology. Cholesteatoma is a complex and heterogeneous clinical phenotype, it is often associated with chronic otitis media and with some rare congenital syndromes known to affect ear morphology and related pathologies.
Original languageEnglish
Pages (from-to)55–67
Number of pages13
JournalClinical Otolaryngology
Issue number1
Early online date1 Jun 2017
Publication statusPublished - Feb 2018

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