Cholesteatoma, Congenital

Aural cholesteatoma is an abnormal accumulation of keratin-producing squamous epithelium in the middle ear, epitympanum, mastoid, or petrous apex (Arriaga, 1994). The misnomer 'cholesteatoma' originated from the erroneous assumption that the mass represented a cystic tumor of cholesterol and fat. The original term has been retained, despite suggestions that the more pathologically accurate term 'keratoma' be adopted. Most cholesteatomas are acquired in the setting of recurrent otitis media (166760). Primary or congenital cholesteatomas are rare, representing approximately 2 to 5% of cases in several large series. Graham and Allanson (1999) described congenital cholesteatoma and malformations of the facial nerve in association with the branchiootorenal syndrome (BOR; 113650). They reviewed information on the incidence, clinical characteristics, diagnosis, and pathogenesis of congenital cholesteatoma. The evidence for mendelian inheritance was minimal.

Shaoul et al. (1999) described a 6-year-old boy with adenomatous polyposis coli and congenital cholesteatoma; see 175100.0023.