Purpose of review: Only 2-4% of cholesteatomas presenting to pediatric otologists are congenital in origin. Disease severity can range from intratympanic pearls to middle ear and mastoid obliteration. Recently, highlighted variations of this rare disorder warrant a systematic approach to disease assessment and surgical decision making. This review provides a comprehensive method to diagnose and manage congenital cholesteatoma based on current literature.
Recent findings: The holding theory of the origin of congenital cholesteatomas is that they arise from retained epithelial cell rest. Primary development can vary among sites within the middle ear and mastoid. 'Open' and 'closed' varieties have been proposed. However, disease severity depends on location, patient age, ossicular integrity, and number of anatomic sites involved. These variables have inspired the development of staging systems whereby appropriate surgical approaches can be designed. Computed tomography (CT) scans are necessary and continue to be the best radiographic tool for surgical planning. Over 30% of congenital cholesteatomas can be extirpated through a transcanal approach. Involvement of the posterior quadrant, over three anatomic subsites, or the mastoid cavity obligates standard canal wall-up techniques. Canal wall-down procedures are rarely required.
Summary: Congenital cholesteatomas frequently extend beyond the typically described anterosuperior location of the middle ear. Ossicular destruction, mastoid infiltration, and tympanic membrane rupture are encountered more frequently than previously thought. Advanced disease predominately occurs in older children and requires sophisticated assessment and surgical planning beyond removing a simple keratin cyst.