Unusual association of congenital middle ear cholesteatoma and first branchial cleft anomaly: management and embryological concepts

A different type of branchial fistula as part of a branchiootorenal syndrome

“…Fistulas of branchial cleft origin are almost always present at birth, with a small pinpoint cutaneous opening (although they may go unnoticed for years if there is no drainage) [3]. First branchial cleft anomalies are known to have a potential otologic presentation because the external auditory canal represents the physiological persistence of the first branchial cleft [4]. BOR syndrome is an automosal dominant disorder with reduced penetrance and variable expressivity.…”

First Branchial Cleft Anomalies

“…Careful otologic evaluation can assist providers in making correct diagnosis of first BCAs. 12 Previous case series have described otologic complications, including cholesteatoma 13 ; however, we were surprised by the high frequency of children who presented with a primary otologic complaint. Otologic complications were the most frequent presenting symptoms, occurring in nearly half of the cases.…”

Presentation of first branchial cleft anomalies: the Sheffield experience

“…Given the role the first cleft plays in the formation of the external auditory meatus, this association is not surprising. Previous authors 1,4,6,8,9,11 have noted the connection of the tract to the external auditory meatus and associated structures. Three of our patients had a strand of fibrous material extending from the floor of the external auditory meatus to the umbo, and one had a duplication of the ear canal attached to the tympanic membrane.…”

“…They extend upwards, passing superficial to, deep to or through the branches of the facial nerve, to end in or around the external auditory meatus. In an unusual case described by Nichollas et al, 6 a type two branchial cleft anomaly was associated with a cholesteatoma.…”