Various names for congenital cholesteatoma have been proposed over the years including primary cholesteatoma (fr. Greek.chole, bile + stear, tallow, suet), true or cholesteatoma verum, primary epidermoid and genuine cholesteatom well as margaritoma (fr. Gr.margarites, a pearl), steatoma and keratoma (fr. Gr. keratos, horn).
The diagnosis of congenital cholesteatoma has always presented some difficulty and controversy. In 1936, R.W.Teed demonstrated an epithelial thickening of ectodermal origin which developed in close relationship to the geniculate ganglion, at the dorsal end of the first pharyngeal cleft, medial to the neck of the malleus.
Under most circumstances this structure would be expected to atrophy and become normal middle ear endothelium. When this did not occur, its continued growth could give rise to what would later present as a cholesteatoma. H. P. House is generally credited with reporting the first bona fide case of congenital cholesteatoma of the middle ear behind an intact tympanic membrane in 1953.
Derlacki and Clemis can be credited with legitimizing congenital cholesteatoma. In 1965, they simplified the classification into a) petrous pyramid type, b) mastoid type and c) tympanic type. It is now generally accepted that congenital cholesteatoma does develop from a congenital epithelial rest in the middle ear and may present at any age from infancy to adulthood; although, once the disease has attained a large size or extended beyond the middle ear it can be impossible to to establish a congenital as opposed to an acquired etiology.
The typical patient presents with an asymptomatic discrete white lesion behind a currently intact tympanic membrane. There is no available history of significant trauma or major ear infection. The mastoid cell systems are most often symmetrically well-developed and aerated. Retraction pockets either of the attic or mesotympanum are not a feature and the Eustachian tube is apparently functional. These lesions are usually unilocular and restricted to the middle ear, presenting anterosuperiorly in the large majority of cases. When the diagnosis is early, ideally before three or four years of age, and the cholesteatoma confined to the anterosuperior quadrant of the middle ear one can expect curative removal and the preservation of normal hearing.
For publications related to this topic, please go to Pubmed.