Abstract
Anomalies of the first branchial cleft (FBC) are uncommon, and recognizing them can be difficult. Although present at birth, many cases do not become evident until later in childhood or adolescence, with an initial clinical presentation in adulthood being encountered only rarely. Typically, FBC anomalies present as a unilateral cyst, sinus, or fistula associated with the external auditory canal, or with swelling or an inflammatory opening in the peri-auricular/parotid area. They are commonly misdiagnosed and are often treated inadequately before being excised completely. A 40-year-old woman presented to the maxillofacial outpatient clinic with an episode of bilateral pre-auricular tumefaction, initially diagnosed as temporomandibular dysfunction syndrome. This was associated with bilateral pre-auricular pain that increased with mandibular movements. In relation to the patient’s history, and given the bilateral presence of a pre-auricular pit, a diagnosis of FBC anomaly was made. Further investigation showed a related asymptomatic history in five other cases across four generations of the same family. The authors describe here the case, the diagnostic methodology, and the wide local excision technique used for removal of the branchial sinus.
Branchial anomalies comprise a heterogeneous group of congenital malformations that arise from the incomplete obliteration of pharyngeal clefts and pouches during embryogenesis. Fistulae, cysts, sinus tracts, and cartilaginous remnants are all clinical manifestations of an abnormal sequence of intrauterine events. First branchial cleft (FBC) lesions represent less than 8% of all branchial cleft defects and should be considered in the differential diagnosis of head and neck masses. Classically, they are duplication anomalies of the external auditory canal and can involve the middle ear and parotid gland. It is common for FBC lesions to become infected, which causes appreciable morbidity in childhood. An initial clinical presentation in adulthood is rarely encountered. Approximately 2–3% of FBC cases are bilateral, with such presentations appearing to have a familial component. As is the case for other branchial anomalies, FBC defects may be associated with other facial malformations, which may help in the diagnosis. Although most are isolated findings, some are associated with syndromes. Bilateral FBC can be part of two known syndromes: branchio-oto-renal and branchio-oculo-facial, both of which can be associated with renal abnormalities, hearing loss, and lachrymal drainage anomalies. Another disease with bilateral FBC and distinctive facial features is the oculo-auriculo-vertebral spectrum (hemifacial microsomia or Goldenhar syndrome).
The purpose of this article is to report a new case of bilateral FBC anomaly in which there is evidence of a genetic aetiology, and to describe the clinical characteristics, radiological features, and surgical treatment of the condition.
Case report
A 40-year-old woman was referred to the department of maxillofacial surgery with a 6-month history of bilateral pre-auricular tumefaction and increased pain. She had previously received a preliminary diagnosis of temporomandibular dysfunction syndrome and had been treated conservatively, but her condition had not improved. She had a stuffy nose with a chronic non-productive cough of duration slightly longer than that marking the onset of the pain. She had protuberant ears with attached lobules, a high occlusal plane facial type with convex profile, mandibular retrusion with microgenia, and class II occlusion. On examination, the external auditory meatus revealed the bilateral presence of a 1-mm pit located slightly anteriorly to the ear (crus of helix) with evidence of scarring ( Fig. 1 a and b ). There was no limitation of mandibular movements, but a purulent exudate was observed in the right and left pre-auricular regions with movements associated with the opening of the mouth ( Fig. 1 c and d). The patient had no recollection of symptoms of trismus or hearing loss during the preceding months, the facial nerve function was intact, and there was no evidence of palpable cervical lymphadenopathy. The remainder of the head and neck examination was normal. Abdominal ultrasound imaging revealed a normal left kidney (10 cm) and a rather small right kidney (8.5 cm), which could be considered as within the normal range; there were no cysts or hydronephrosis and echogenicity was normal. Renal analysis showed normal kidney function with serum creatinine of 0.8 mg/dl and creatinine clearance of 98.8 ml/min and no proteinuria. She had no other relevant medical history. Computed tomography was performed, which showed the extent of the lesion and the associated tract running along the anterior wall of the external auditory meatus ( Fig. 2 ). A provisional diagnosis of an FBC anomaly was made.
A family history suggesting a hereditary origin was noted; on questioning the patient reported that several members of her family had similar lesions to those she suffered, including her grandfather, her mother, one sister, a niece, and a nephew. These relatives have since been reviewed and confirmed to have the same pathology bilaterally, which has been symptom-free and has not been treated ( Fig. 3 ). These cases have had no hearing problems or kidney disease. There is no evidence of consanguinity in the family. Genetic counselling was provided for this familial case.
The patient underwent surgery under general anaesthesia; the bilateral lesions were observed to be intimately related to the ascending branch of the helix, with the fistula direction determined with a probe ( Fig. 4 a) . The deep extension ran medially, terminating on the bony auditory canal near the temporomandibular joint ( Fig. 4 b). Surgical excisions of the bilateral lesions were performed via a supra-auricular approach, with oval circumscription of the orifice and extirpation of the entire length of the lesion in a single block ( Fig. 4 c). The wounds were closed in layers. The patient was discharged on the second postoperative day and followed up in the outpatient clinic. The tissue was examined by the pathology department and a histological diagnosis was made of the FBC; this showed that the lining was stratified squamous epithelium, indicating its ectodermic origin ( Fig. 5 a and b ). After surgery, the patient had an uneventful postoperative course with decreased swelling in the affected region, complete healing of the wound, and no signs of facial nerve dysfunction or pain. There was no evidence of recurrence after a follow-up of 2 years.
