Bilateral congenital cholesteatoma in branchio-oto-renal syndrome

Abstract

Branchio-oto-renal syndrome is a rare autosomal dominant condition characterized by hearing loss, branchial arch abnormalities and renal tract malformations. We present the first reported case of branchio-oto-renal syndrome associated with bilateral congenital cholesteatoma and ossicular chain abnormalities. The pathogenesis of this syndrome is described and the literature is reviewed.

Diagnostic and surgical challenge: Middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies

“…The presence of other articles in the literature describing similar reports of congenital dermoid cyst believed to be an extensive cholesteatoma points to the relative abundance of cholesteatoma over dermoid cyst [9]. Indeed, there is one report of bilateral congenital cholesteatomas in a patient with BOR syndrome [16].…”

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome

“…Eya1 is expressed in the mesodermal core during early muscle development and in adult skeletal muscles (87). In addition, patients with mutations in EYA1 have various ear defects including high susceptibility to OM (88,89). Six1 −/− ; Eya1 −/− mice have severely hypoplastic branchiomeric muscles (86), suggesting an additional role of these genes in branchiomeric myogenesis.…”

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

“…Congenital cholesteatoma had been associated with pre-auricular cysts and pits [4,5] and with branchio-oto-renal syndrome [5]. An association with anomaly of the ear, which was initially thought to be a congenital middle ear cholesteatoma has also been reported [6]. In fact, description of the surgical findings showed that it was an epidermoid cyst of the external auditory canal, corresponding exactly to the description of type 1 of Work.…”