Malformations Associated With Pediatric Congenital Cholesteatomas

OBJECTIVE To describe malformations associated with pediatric congenital cholesteatomas of the middle ear. STUDY DESIGN Retrospective study. SETTING Tertiary referral center. PATIENTS One hundred and seventy-three cases of middle ear congenital cholesteatoma (CC) in 171 children operated between 2007 and 2017. INTERVENTIONS Demographic, clinical, and surgical data were collected from operative reports. MAIN OUTCOME MEASURES We first described the type and rate of malformations associated with CC. Secondly, we compared cholesteatoma features in two subgroups: anterior superior (AS) versus posterior superior (PS) starting point. Third, we compared demographic, clinical, and surgical data between patients with and without malformation. RESULTS CC was associated with malformations in 17 cases (17/173; 9.8%). The main malformation was preauricular fistula (8/173; 4.6%). Other malformations were: one first branchial cleft, two labio palatine cleft, one nasal cyst, two preauricular fibrochondroma, and five other malformations. PS congenital cholesteatomas were diagnosed in older children (4.6 versus 8.6 years, p < 0.05) and had greater extension in middle ear than the AS cholesteatoma (39.7% versus 95.8%, p < 0.05). We did not find any significant difference between these two groups regarding the associated malformations. We did not find a difference in clinical presentation of CC between patients with and without associated malformation. CONCLUSIONS We found various associated malformations in 9.8% of CC cases with no statistical difference in the malformation rate between AS and PS groups. All the malformations were located in the craniofacial region suggesting that genes implicated in craniofacial development may play a role in the pathophysiology of CC.