A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management.

BACKGROUND: The presence of a branchial fistula with communication both internally and externally: a 'true' branchial fistula is rare, and may arise in the context of autosomal dominant conditions such as branchiootic syndrome and branchiootorenal syndrome. STUDY: We discuss the case of a true branchial fistula, which recurred after initial surgical excision, in a patient with branchiootic syndrome. The residual tract was dissected in a second operation through stepladder neck incisions and removed in toto via an intraoral approach. No renal abnormalities were detected on investigation with ultrasound. DISCUSSION: Incomplete excision of a branchial sinus is likely to cause recurrence however intraoperative visualisation of the tract can can sometimes prove challenging. An combined intraoral and external approach aids delineation and tract definition when there is a true branchial fistula and can therefore facilitate a complete excision. Suspicion of an hereditary aetiology should be raised in patients with bilateral or preauricular features, or a positive family history, which may then prompt additional renal and genetic investigation.