Branchial anomalies: A Retrospective
analysis in a tertiary care hospital.
Abstract
Branchial anomalies are the second most common congenital head
and neck masses. Although congenital, all age groups are known to be
affected.
Branchial anomalies are common congenital pediatric head and neck
lesions but are comprised by several diverse anomalies. Treatment
must be tailored depending on which branchial arch is involved and
whether a cyst mass or sinus/fistula tract is present.
Keywords
Branchial anomaly, branchial cleft cyst, branchial fistula, branchial
sinus, congenital neck mass, pediatric neck mass
INTRODUCTION
Branchial anomalies comprise approximately 20% of pediatric
congenital head and neck masses, making them, after thyroglossal
duct cysts, the second most common1. Although the term branchial
anomaly encompasses first, second, third and fourth branchial cleft
cysts, sinuses and fistulae, all of which are distinct clinical entities
and require separate management, all are thought to result from
a similar embryologic error: incomplete obliteration of the branchial
apparatus during embryogenesis2. The branchial apparatus consists of
six grooves (ectoderm), arches (mesoderm) and pouches (endoderm).
When a pouch or groove fails to obliterate, it may communicate with
either skin or mucosa of the upper airway, forming a sinus. When
both a pouch and a groove fail to obliterate, it may form a
communication between the skin and mucosa, which is termed a
fistula. When a branchial groove remnant forms an epithelial-lined
space without communication to the skin or mucosa, a cyst is
formed1. Each of the six branchial arches (with the exception of the
fifth) develops into specific structures in the head and neck. A
branchial anomaly and its associated tract typically lies inferior to all
the derivatives of its associated arch and superior to all derivatives of
the next arch2. The malformations can, therefore, be divided into first
through fourth branchial anomalies.
PATIENTS AND METHODS:
A retrospective analysis was conducted between Jan 2008 to June
2012, over a period of 54 months in KIMS Bangalore. Total number
of 31 cases were analysed.
RESULTS
First and second decade was the most common age group affected.
(Chart 1). Eighty nine percent of patients were males. Right sided
lesions were seen in 68% of patients, left in 22% and bilaterally in
10% of patients. Discharge from the external opening and swelling
were the most common symptoms. (Figures 1, 2, and 3).
Surgery was performed in all the patients. Elliptical incision was
used in the majority of cases; step ladder incision was the next most
common incision used. (Figure 4).
DISCUSSION
FIRST BRANCHIAL ANOMALY
First branchial clefts comprise 5–25% of all branchial anomalies3,4.
Their location is variable, extending from the retroauricular and
parotid region, cervically from the area below the mandible and above
the hyoid5. Symptoms at presentation typically vary with location.
Parotid and retroauricular lesions classically present as an enlarging
mass often after infection with associated erythema and pain.
Occasionally, otorrhea may be seen from the external auditory
canal6,7. When within the parotid, the course of the tract in
relationship to the facial nerve is variable8. Work9 classified first
branchial cleft anomalies on the basis of anatomical and histological
features. Type 1 is of ectodermal origin and is considered a
duplication of the membranous external auditory canal. Typically,
they present in young children as a thin walled, soft mass protruding
in the external auditory canal. Type 2 is a duplication of the
membranous external auditory canal and pinna, containing skin
(ectoderm) and cartilage (mesoderm). Classically, they present later in
childhood as a cyst, sinus or fistula5.
SECOND BRANCHIAL ANOMALY
Second clefts are the most common, ranging from 40 to 95% of all
branchial anomalies1,10,11. Classically, their complete course begins
near the anterior border of the sternocleidomastoid muscle (SCM),
tracks superior and lateral to the common carotid artery, passing
medially between the external and internal carotid arteries, passing
lateral and superior to the glossopharyngeal and hypoglossal nerves
and penetrating the middle pharyngeal constrictor muscle to open into
the tonsillar fossa10, 12. Sinuses are more frequent than cysts, which
are more frequent than fistulae13,14. Second branchial cysts classically
present as a painless neck mass along the anterior border of the upper
third of the SCM, or after acute enlargement with concomitant
respiratory infection15. Sinuses typically present inferiorly with a
draining opening near the base of the neck where the strap muscles
meet the SCM. Unilateral fistulae are found much more commonly on
the right side with rates reported as high as 89%, whereas bilateral
anomalies may be associated with branchiootorenal syndrome16.
THIRD BRANCHIAL ANOMALY
Third clefts represent only 2–8% of all branchial malformations4,17.
Similar to second anomalies, the tract arises at the skin along the mid
to lower third of the anterior border of the SCM, pierces the platysma
with variable passage through the thyroid. It then ascends along the
carotid sheath, passing over the superior laryngeal nerve, deep to the
glossopharyngeal nerve, behind the internal carotid, piercing the
thyrohyoid membrane and entering the upper lateral piriform sinus
wall18,19. In contrast to second branchial sinuses, third clefts are
predominately on the left, with a reported rate of 89%20. The classic
presentation is as a recurrent left abscess or acute suppurative
thyroiditis during the first decade of life20,21.
FOURTH BRANCHIAL ANOMALY
The theoretic course of a fourth branchial anomaly is similar to a third
except it passes under the superior laryngeal nerve but over the
recurrent laryngeal and hypoglossal nerves. It then dips back into the
chest to pass around the aortic arch on the left and the subclavian
artery on the right. It then ascends to enter the larynx near the
cricothyroid joint or through the lower horn of the thyroid cartilage,
through the inferior constrictor, and into the apex of the piriform
sinus19,22. The key difference between the third and fourth is the
relationship to the superior and recurrent laryngeal nerves. The third
will pass superficial to both the superior and recurrent where the
fourth will pass deep to the superior but superficial to the recurrent.
These anomalies, as in the third, are predominately on the left side,
with Nicoucar et al23 reporting 93.5% left-sided10.
DIAGNOSTIC INVESTIGATIONS
CT is the most commonly used radiograph by practitioners1,15,20,23 and
used to diagnose cystic lesions.
ULTRASOUND
Ultrasound is easy, fast and does not require sedation or radiation.
Branchial cysts appear as well defined, smoothly outlined and
uniformly anechoic lesions with posterior enhancement24. Studies of
diagnostic accuracy vary. Mitroi et al13 report 100% accuracy in the
diagnosis of 23 branchial cysts and sinuses, thus, obviating the need
of CT or MRI. Others report significantly lower accuracy citing
operator dependency as a principal cause25,26. Ultrasound is limited in
its ability to depict hypopharyngeal
lesions when compared with CT or MRI25. Nicoucar et al20 reported a
positive predictive value for ultrasound of only 7% for third branchial
anomalies.
COMPUTED TOMOGRAPHY AND MRI
A review of 87 patients who received a preoperative CT for a reported
branchial anomaly revealed a diagnostic accuracy of 95% for cysts,
81% for sinuses and 50% for fistulae1. Several radiologic features
of contrast-enhanced CT are typical of branchial clefts including fat
streaking and hypodensity within the ipsilateral thyroid lobe, and gas
bubbles along the tract or within the cyst27. Unfortunately, the ability
of CT to chart the entire course of a sinus tract or fistula is variable. In
first branchial anomalies, high-resolution CT effectively shows the
relationship with the external auditory canal and the middle ear6.
MRI is also accurate in detecting branchial cysts but is variable in its
effectiveness in delineation of the fistula or sinus tract28,29,30. In
regards to first branchial anomalies, MRI allows assessment of the
extent of the lesion, especially within parotid tissue6. Chan et al.7
reported that the relationship of the facial nerve and the deep portion
of the tract was difficult to establish preoperatively in first branchial
anomalies with both MRI and CT. Nicoucar et al.20,23 report a positive
predictive value for MRI and CT of 84 and 49% for third branchial
anomalies and 63 and 46% for fourth branchial anomalies,
respectively.
Fistulography, barium swallow, direct laryngoscopy/pharyngoscopy
are other investigative modalities.
TREATMENT
Historically, definitive treatment of branchial anomalies has been
complete surgical excision. These lesions do not spontaneously
regress and often are subject to recurrent infections. The timing of
surgery is controversial and dependent on patient age and infection
history. Some1 recommend early surgical excision at 1 year of age,
ideally performed before infections occur and distort the surgical
planes of dissection. Support to this model is given by the increased
rate of recurrence of previously infected anomalies4,37. This is in
contrast to others’ recommendation of delaying surgery until age 2–
34,17, when adjacent structures are larger and easier to identify.
FIRST BRANCHIAL ANOMALIES
The ideal surgical approach is a superficial parotidectomy with facial
nerve dissection and complete excision of the lesion1,2, due to the
potential intimate and variable course of the tract with the facial
nerve. In D’Souza’s et al8 literature review, of 87 cases of excision
with facial nerve identification, 21% resulted in temporary nerve
paralysis and less than 1% with permanent paralysis. This is
compared with 29 and 12%, respectively, in cases in which the facial
nerve was not identified. Case reports of less invasive surgical
techniques that bypass parotidectomy have been reported with
acceptable results5,7,38.
SECOND BRANCHIAL ANOMALIES
The traditional treatment of second branchial anomalies is surgical
excision of the entire lesion. This involves a transverse cervical
incision encompassing the external sinus opening when present.
During cyst excision, careful exploration for an associated sinus tract
must be performed15. During sinus excision, a second ‘step-laddered’
incision may be required for better exposure near the pharynx10,21.
Fistula excision may be aided with cannulation of the tract with 2–0
or 3–0 monofilament suture or lacrimal probe15. A sinus tract may be
injected externally with methylene blue, however, care must be taken
as extravasation into surrounding tissues may make dissection more
difficult39. Exploration of the carotid sheath to the lateral pharyngeal
wall may be undertaken to fully excise any tract that may not have
been identified on preoperative imaging1. Approaches offering less
visible scarring have been described. Roh and Yoon11 approach
second branchial anomalies via a retroauricular incision, which allows
excellent visualization with ‘invisible’ external scarring. Endoscopic
excision of second cysts via a retroauricular approach may be
employed, eliminating nearly all visible scarring40.
THIRD AND FOURTH BRANCHIAL
ANOMALIES
Treatments for third and fourth branchial anomalies have historically
been by complete surgical excision of the entire tract with thyroid
lobectomy when involved [10&,19,22,23]. Madana et al.21 reported
no recurrences with 1–3-year follow-up after excision of 18 lesions
with hemithyroidectomy. Pereira et al.19 describe a combined
approach including direct laryngoscopy with catheter insertion into
the piriform defect prior to formal external surgical excision with no
complications or recurrences. A literature review by Nicoucar et
al.20,23 of third and fourth branchial anomalies revealed a recurrence
rate of 94 and 89%, respectively, after incision and drainage alone.
The reported recurrence rate after primary excision alone was 15% for
both third and fourth fistulae. When combined with
hemithyroidectomy, recurrence rate remained the same for third
fistulae, but dropped to 8% for fourth. The complication rate for both
lesions was significantly higher when performed on children under 8
years of age. Complete excision is challenging due to their complex
anatomical course10,41. Care must be taken to preserve the recurrent
laryngeal nerve (RLN), which is often intimately associated with the
tract and easily injured22,27,42. Endoscopic techniques have shown
successful outcomes with possible reduction of complications
including RLN paralysis. These aim to seal the piriform defect using
several modalities including electrocoagulation with diathermy
probe43,44, low-power diode laser45, chemical cauterization with
trichloroacetic acid46,47 and silver nitrate stick48 and fibrin glue49.
Leboulanger et al.50, in their review of 20 patients with fourth
branchial anomalies treated with laser endoscopic cauterization,
report low failure rates (13%) except in neonates (40%). Nicoucar’s
et al. review20,23 reports that the recurrence rate for endoscopic
procedures was 18 and 15% for third and fourth branchial anomalies
respectively, which is almost identical to open excision. No
complications were reported.
CONCLUSION
Branchial anomalies are common congenital pediatric head and neck
lesions but are comprised by several diverse anomalies. Treatment
must be tailored depending on which branchial arch was involved and
whether a cyst mass or sinus/fistula tract is present.
References
1. Schroeder JW Jr, Mohyuddin N, Maddalozzo J. Branchial
anomalies in the pediatric population. Otolaryngol Head Neck Surg
2007; 137:289–295.
2. Bajaj Y, Tweedie D, Ifeacho S, et al. Surgical technique for
excision of first branchial cleft anomalies: how we do it. Clin
Otolaryngol 2011; 36:371–374.
3. Olsen KD, Maragos NE, Weiland LH. First branchial cleft
anomalies. Laryngoscope 1980; 90:423–436.
4. Choi SS, Zalzal GH. Branchial anomalies: a review of 52 cases.
Laryngoscope 1995; 105 (9 Pt 1):909–913.
5. Chen Z, Wang Z, Dai C. An effective surgical technique for the
excision of first branchial cleft fistula: make-inside-exposed method
by tract incision. Eur Arch Otorhinolaryngol 2010; 267:267–271.
6. Triglia JM, Nicollas R, Ducroz V, et al. First branchial cleft
anomalies: a study of 39 cases and a review of the literature. Arch
Otolaryngol Head Neck Surg 1998; 124:291–295.
7. Chan KC, Chao WC, Wu CM. Surgical management of first
branchial cleft anomaly presenting as infected retroauricular mass
using a microscopic dissection technique. Am J Otolaryngol 2012;
33:20–25.
8. D’Souza AR, Uppal HS, De R, Zeitoun H. Updating concepts of
first branchial cleft defects: a literature review. Int J Pediatr
Otorhinolaryngol 2002; 62:103–109.
9. Work WP. Newer concepts of first branchial cleft defects.
Laryngoscope 1972; 82:1581–1593.
10. Bajaj Y, Ifeacho S, Tweedie D, et al. Branchial anomalies in
children. Int J Pediatr Otorhinolaryngol 2011; 75:1020–1023.
11. Roh JL, Yoon YH. Removal of pediatric branchial cleft cyst using
a retroauricular hairline incision (RAHI) approach. Int J Pediatr
Otorhinolaryngol 2008; 72:1503–1507.
12. Olusesi AD. Combined approach branchial sinusectomy: a new
technique for excision of second branchial cleft sinus. J Laryngol Otol
2009; 123:1166–1168.
13. Mitroi M, Dumitrescu D, Simionescu C, et al. Management of
second branchial cleft anomalies. Rom J Morphol Embryol 2008;
49:69–74.
14. Karabulut R, Sonmez K, Turkyilmaz Z, et al. Second branchial
anomalies in children. ORL J Otorhinolaryngology Relat Spec 2005;
67:160–162.
15. Acierno SP, Waldhausen JH. Congenital cervical cysts, sinuses
and fistulae. Otolaryngol Clin North Am 2007; 40:161–176.
16. Maddalozzo J, Rastatter JC, Dreyfuss HF, et al. The second
branchial cleft fistula. Int J Pediatr Otorhinolaryngol 2012; 76:1042–
1045.
17. Ford GR, Balakrishnan A, Evans JN, Bailey CM. Branchial cleft
and pouch anomalies. J Laryngol Otol 1992; 106:137–143.
18. Nusbaum AO, Som PM, Rothschild MA, Shugar JM. Recurrence
of a deep neck infection: a clinical indication of an underlying
congenital lesion. Arch Otolaryngol Head Neck Surg 1999;
125:1379–1382.
19. Pereira KD, Losh GG, Oliver D, Poole MD. Management of
anomalies of the third and fourth branchial pouches. Int J Pediatr
Otorhinolaryngol 2004; 68:43–50.
20. Nicoucar K, Giger R, Jaecklin T, et al. Management of congenital
third branchial arch anomalies: a systematic review. Otolaryngol
Head Neck Surg 2010; 142:21–28; e2.
21. Madana J, Yolmo D, Kalaiarasi R, et al. Recurrent neck infection
with branchial arch fistula in children. Int J Pediatr Otorhinolaryngol
2011; 75:1181–1185.
22. Nicollas R, Ducroz V, Garabedian EN, Triglia JM. Fourth
branchial pouch anomalies: a study of six cases and review of the
literature. Int J Pediatr Otorhinolaryngol 1998; 44:5–10.
23. Nicoucar K, Giger R, Pope HG Jr, et al. Management of
congenital fourth branchial arch anomalies: a review and analysis of
published cases. J Pediatr Surg 2009; 44:1432–1439.
24. Baatenburg de Jong RJ, Rongen RJ, Lameris JS, et al. Evaluation
of branchiogenic cysts by ultrasound. ORL J Otorhinolaryngology
Relat Spec 1993; 55:294–298.
25. Park SW, Han MH, Sung MH, et al. Neck infection associated
with pyriform sinus fistula: imaging findings. AJNR Am J
Neuroradiol 2000; 21:817– 822.
26. Shrime M, Kacker A, Bent J, Ward RF. Fourth branchial complex
anomalies: a case series. Int J Pediatr Otorhinolaryngol 2003;
67:1227–1233.
27. James A, Stewart C, Warrick P, et al. Branchial sinus of the
piriform fossa: reappraisal of third and fourth branchial anomalies.
Laryngoscope 2007; 117:1920–1924.
28. Black CJ, O’Hara JT, Berry J, Robson AK. Magnetic resonance
imaging of branchial cleft abnormalities: illustrated cases and
literature review. J Laryngol Otol 2010; 124:213–215.
29. Mukherji SK, Fatterpekar G, Castillo M, et al. Imaging of
congenital anomalies of the branchial apparatus. Neuroimaging Clin
N Am 2000; 10:75–93.
30. Sun Z, Fu K, Zhang Z, et al. Multidetector computerized
tomographic fistulography in the evaluation of congenital branchial
cleft fistulae and sinuses. Oral Surg Oral Med Oral Pathol Oral Radiol
2012; 113:688–694.
31. Guarisco JL, Fatakia A. Intraoperative fistulograms in the
management of branchial apparatus abnormalities in children. Int J
Pediatr Otorhinolaryngol 2008; 72:1777–1782.
32. Seki N, Himi T. Retrospective review of 13 cases of pyriform
sinus fistula. Am J Otolaryngol 2007; 28:55–58.
33. Whetstone J, Branstetter BF 4th, Hirsch BE. Fluoroscopic and CT
fistulography of the first branchial cleft. AJNR Am J Neuroradiol
2006; 27:1817–1819.
34. Ryu CW, Lee JH, Lee HK, et al. Clinical usefulness of
multidetector CT fistulography of branchial cleft fistula. Clin Imaging
2006; 30:339–342.
35. Thomas B, Shroff M, Forte V, et al. Revisiting imaging features
and the embryologic basis of third and fourth branchial anomalies.
AJNR Am J Neuroradiol 2010; 31:755–760. Pereira KD, Davies JN.
Piriform sinus tracts in children. Arch Otolaryngol Head Neck Surg
2006; 132:1119–1121.
37. Reiter D. Third branchial cleft sinus: an unusual cause of neck
abscess. Int J Pediatr Otorhinolaryngol 1982; 4:181–186.
38. Baatenburg de Jong RJ. A new surgical technique for treatment of
preauricular sinus. Surgery 2005; 137:567–570.
39. Waldhausen JH. Branchial cleft and arch anomalies in children.
Semin Pediatr Surg 2006; 15:64–69.
40. Chen LS, Sun W, Wu PN, et al. Endoscope-assisted versus
conventional second branchial cleft cyst resection. Surg Endosc 2012;
26:1397–1402.
41. Yang C, Cohen J, Everts E, et al. Fourth branchial arch sinus:
clinical presentation, diagnostic workup, and surgical treatment.
Laryngoscope 1999; 109:442–446.
42. Narcy P, Aumont-Grosskopf C, Bobin S, Manac’h Y. Fistulae of
the fourth endobranchial pouch. Int J Pediatr Otorhinolaryngol 1988;
16:157–165.
43. Jordan JA, Graves JE, Manning SC, et al. Endoscopic
cauterization for treatment of fourth branchial cleft sinuses. Arch
Otolaryngol Head Neck Surg 1998; 124:1021–1024.
44. Verret DJ, McClay J, Murray A, et al. Endoscopic cauterization of
fourth branchial cleft sinus tracts. Arch Otolaryngol Head Neck Surg
2004; 130:465–468.
45. Sayadi SJ, Gassab I, Dellai M, et al. [Laser coagulation in the
endoscopic management of fourth branchial pouch sinus]. Ann
Otolaryngol Chir Cervicofac 2006; 123:138–142.
46. Stenquist M, Juhlin C, Astrom G, Friberg U. Fourth branchial
pouch sinus with recurrent deep cervical abscesses successfully
treated with trichloroacetic acid cauterization. Acta Otolaryngol 2003;
123:879–882.
47. Kim KH, Sung MW, Koh TY, et al. Pyriform sinus fistula:
management with chemocauterization of the internal opening. Ann
Otol Rhinol Laryngol 2000; 109:452–456.
48. Pereira KD, Smith SL. Endoscopic chemical cautery of piriform
sinus tracts: a safe new technique. Int J Pediatr Otorhinolaryngol
2008; 72:185–188.
49. Cigliano B, Cipolletta L, Baltogiannis N, et al. Endoscopic fibrin
sealing of congenital pyriform sinus fistula. Surg Endosc 2004;
18:554–556.
50. Leboulanger N, Ruellan K, Nevoux J, et al. Neonatal vs delayedonset fourth branchial pouch anomalies: therapeutic implications.
Arch Otolaryngol Head Neck Surg 2010; 136:885–890.
51. Roh JL, Sung MW, Hyun Kim K, Il Park C. Treatment of
branchial cleft cyst with intracystic injection of OK-432. Acta
Otolaryngol 2006; 126:510–514.
52. Kim MG, Lee NH, Ban JH, et al. Sclerotherapy of branchial cleft
cysts using OK-432. Otolaryngol Head Neck Surg 2009; 141:329–
334.
53. Nixon PP, Healey AE. Treatment of a branchial sinus tract by
sclerotherapy. Dentomaxillofac Radiol 2011; 40:130–132.
CHART 1
14
12
10
8
6
4
2
0
NO OF CASES
FIGURE 1 (Cyst & Fistula)
FIGURE 2
FIGURE 3
FIGURE 4