Disorders of the first branchial cleft are rare and often present difficult
ies in diagnosis. A case is reported that presented with the clinical and h
istological features of cholesteatoma. The embryology, diagnosis and treatm
ent of branchial arch defects are also reviewed. The case highlights the fa
ct that a high index of suspicion should be aroused for patients with a dis
charging ear in the presence of an intact tympanic membrane.