Hereditary congenital cholesteatoma. A variant of branchio-oto dysplasia.

A mother and daughter both presented at age 5 years with the triad of right-sided congenital cholesteatoma, right preauricular pits, and bilateral sensorineural hearing loss. Twenty-six years apart, both were treated with middle ear exploration and removal of a cholesteatoma that filled the sinus tympani, facial recess, and middle ear. The sensorineural hearing losses were nonprogressive, and the preauricular pits were asymptomatic. These two cases may represent a unique variant of branchio-oto dysplasia. The mechanism of formation of these anomalies and the possible modes of inheritance are conjectural. This triad, however, supports genetic predisposition rather than aberrant epithelial rests during morphogenesis as a possible cause in congenital cholesteatoma.