Basics
Description
- Phylogenetically, the branchial apparatus represents the "gills"Ł seen in fish and amphibians.
- The fetal branchial apparatus is a foregut derivative and develops in the 2nd fetal week.
- Five paired pharyngeal arches are separated by four endodermal pouches internally and four ectodermal clefts externally.
- Overgrowth of the second through fourth cleft creates the cervical sinus and occurs during weeks 4 and 5.
- Persistence of the cervical sinus produces a spectrum of cysts, sinus tracts, and fistulae.
- Classification
- First branchial cleft anomalies
- Site: anywhere from external auditory canal to angle of mandible, usually superior to or within parotid
- Fistula tract: external auditory canal
- Second branchial cleft anomalies
- Site: ventral to anterior border of sternocleidomastoid muscle, lateral to carotid sheath, and dorsal to submandibular gland
- Fistula tract: palatine tonsil
- Third branchial cleft anomalies
- Site: posterior triangle in middle to lower left side of the neck near level of upper thyroid lobe
- Fistula: upper lateral piriform sinus wall to lower lateral neck posterior to sternocleidomastoid muscle
- Fourth branchial cleft anomalies
- Site: close association to thyroid gland associated with clinical thyroiditis if cyst infected
- Fistula: apex of piriform sinus to base of neck anterior to sternocleidomastoid muscle
Epidemiology
- Overwhelming majority of cysts in newborns and infants are developmental, whereas in children and adults, they are inflammatory or neoplastic.
- Branchial cleft cysts are the most common congenital neck lesion. Although congenital, usually present in older children and adults.
- Branchial fistula and sinuses are common in children but cysts are more commonly seen in adults.
- Midline malformations are most often thyroglossal duct cysts or dermoids.
- Cysts occurring in the laterocervical region are usually branchial cleft malformations; the most common of these are derivatives of the second cleft, followed by those of the first cleft, of the fourth pouch and thymic cysts.
- Third and fourth branchial cleft anomalies are rare, with most presenting as sinus tracts rather than cysts.
- Suspect congenital anomaly in the clinical setting of recurrent infection.
Risk Factors
Genetics
Familial history of branchial defects occasionally noted á
Diagnosis
History
- Present since birth
- Recurrent neck infections
- Intermittent discharge from neck
- Fever
- Tenderness
Physical Exam
- Mass usually mobile
- Usually a single lesion
- Nonpulsatile
- Lesion usually nontender (unless actively infected)
- Assess for sites of drainage:
- At the anterior or posterior border of the sternocleidomastoid muscle
- In the posterior pharynx at the tonsillar fossa or piriform sinus
Diagnostic Tests & Interpretation
Lab
- Complete blood count with differential: Increased white blood cell count with left shift seen with infection.
- Tuberculin test and interferon-gamma release assays to rule out mycobacterial infection, including atypical mycobacteria
- Microbiology: Oral cavity flora in neck abscess is suspicious for a branchial pouch anomaly.
Imaging
- Chest radiography to assess for hilar adenopathy, suggesting a systemic process (such as tuberculosis or malignancy)
- Lateral neck radiography to assess for airway compromise (not usually seen)
- Ultrasound to help differentiate solid masses from cystic masses
- Fistulogram to inject contrast into the fistula to delineate its course
- Computed tomography (CT) scan of neck for superior spatial delineation and definition of anatomic compartment of the lesion
- Magnetic resonance imaging (MRI) for more detailed soft tissue characterization and recognition of solid components within cystic masses
- CT scans and MRI may be used for preoperative planning in patients with recurrent neck masses or clinically complex cases
Differential Diagnosis
- Congenital
- Anterior triangle of neck
- Thymic cyst
- Midline and anterior triangle of neck
- Ranula
- Laryngocele
- Sialocele
- Thyroglossal cyst
- Dermoid/teratomatous cyst
- Bronchogenic cyst
- Posterior triangle of neck
- Inflammatory
- Adenitis
- Granulomatous disease (sarcoidosis, tuberculosis)
- Lymphoepithelial cysts (HIV)
- Otorrhea
- Parotiditis
- Retropharyngeal abscess
- Thyroiditis
- Tumors
- Lymphoma
- Rhabdomyosarcoma
- Cystic schwannoma (anterior triangle of neck)
- Pilomatrixoma
Treatment
Medication
Antibiotics are indicated if the lesion is infected. á
Surgery/Other Procedures
- Excision of the entire lesion is the standard approach.
- Novel endoscopic and marsupialization approaches have been reported.
- Surgery should be delayed if infection is present.
Ongoing Care
Follow-up Recommendations
- Postoperative follow-up as outpatient for wound inspection
- Observation for recurrence or reinfection
Alert
- Lesion may recur if not completely excised.
- High incidence of reinfection if not properly treated.
Prognosis
If lesion completely excised: excellent. Many patients require multiple procedures. á
Complications
- Cysts, sinus tracts, and fistulas can become recurrently infected (especially with abscess formation).
- Surgery is more difficult if there has been previous infections or previous surgery.
- Damage to facial, hypoglossal, and glossopharyngeal nerves, internal jugular vein, or carotid artery can occur during surgical repair.
- Cyst, fistula, or sinus recurrence
- Thyroiditis
- Parotiditis (more common in first branchial arch malformation)
Additional Reading
- Acierno áSP, Waldhausen áJH. Congenital cervical cysts, sinuses and fistulae. Otolaryngol Clin North Am. 2007;40(1):161-176. á[View Abstract]
- Geddes áG, Butterly áMM, Patel áSM, et al. Pediatric neck masses. Pediatr Rev. 2013;34(3):115-124. á[View Abstract]
- Goins áMR, Beasley áMS. Pediatric neck masses. Oral Maxillofac Surg Clin North Am. 2012;24(3):457-468. á[View Abstract]
- Graham áA. Development of the pharyngeal arches. Am J Mes Genet A. 2003;119A(3):251-256. á[View Abstract]
- Mandell áDL. Head and neck anomalies related to the branchial apparatus. Otolaryngol Clin North Am. 2000;33(6):1309-1332. á[View Abstract]
- Nicollas áR, Guelfucci áB, Roman áS, et al. Congenital cysts and fistulas of the neck. Int J Pediatr Otorhinolaryngol. 2000;55(2):117-124. á[View Abstract]
- Nicoucar áK, Giger áR, Jaecklin áT, et al. Management of congenital third branchial arch anomalies: a systematic review. Otolaryngol Head Neck Surg. 2010;142(1):21-28. á[View Abstract]
- Nicoucar áK, Giger áR, Jaecklin áT, et al. Management of congenital fourth branchial arch anomalies: a review and analysis of published cases. J Pediatr Surg. 2009;44(7):1432-1439. á[View Abstract]
- Pahlavan áS, Haque áW, Pereira áK, et al. Microbiology of third and fourth branchial pouch cysts. Laryngoscope. 2010;120:458-462. á[View Abstract]
- Prabhu áV, Ingrams áD. First branchial arch fistula: diagnostic dilemma and improvised surgical management. Am J Otolaryngol. 2011;32(6):617-619.
Codes
ICD09
- 744.49 Other branchial cleft cyst or fistula; preauricular sinus
- 744.41 Branchial cleft sinus or fistula
- 744.42 Branchial cleft cyst
ICD10
- Q18.2 Other branchial cleft malformations
- Q18.0 Sinus, fistula and cyst of branchial cleft
SNOMED
- 253258000 Branchial cleft (disorder)
- 204268008 Fistula of branchial cleft
- 59857007 branchial cleft cyst (disorder)
- 403557001 Midline cervical cleft (disorder)
FAQ
- Q: Can the cyst, fistula, or sinus recur?
- A: Only a 3% recurrence rate is seen if the lesion is completely excised. A higher rate of recurrence is seen in cases of incomplete excision or with previous surgeries.
- Q: Should the lesion be removed as soon as it is discovered?
- A: The lesion should not be removed if there is an active infection present; treat the infection first and then schedule elective surgery.
- Q: What is the likelihood that a pediatric neck mass is malignant?
- A: Most neck masses in childhood are either developmental or inflammatory but up to 15% may be neoplastic.