Printer Friendly

Case report: a branchial cleft anomaly presenting as an oropharyngeal mass.


Branchial anomalies are common cervical pathologic entities encountered in the field of otolaryngology and are typical in the pediatric and young adult populations. In most cases, these anomalies present as a cyst, sinus, or fistula in a rather stereotypical fashion. When a branchial anomaly deviates from the classic presentation, an improper diagnosis and inadequate management are more likely to occur, leading to an increased recurrence rate. We present a case of a 6-year-old girl with an incidental finding of a right posterior oropharyngeal wall mass, distinctly separate from the tonsillar fossa, which was found on pathologic analysis to be a branchial cleft anomaly. The theories regarding the pathogenesis of branchial anomalies are presented, along with other cases of atypical branchial anomalies.


The branchial apparatus develops between the third and seventh weeks of embryologic development. It consists of five paired mesodermic arches, each separated by an endodermal pouch and an ectodermal cleft. Each arch has a corresponding artery, nerve, skeletal structure, and muscle group; these develop into specific anatomic components of the head and neck. When this progression in development strays from the norm, a variety of malformations can occur.

Branchial anomalies (BAs) are in the differential diagnosis of any lateral neck mass. This is especially the case in the pediatric population, in which BAs account for 17% of cervical masses. (1) In most instances, the presentation and diagnosis of BAs are rather straightforward. They are particularly evident with second arch anomalies, which typically occur as cysts, sinus tracts, or fistulae along a course from the tonsillar fossa, internally, to the skin anterior to the sternocleidomastoid muscle, externally.

In our review of the medical literature, we found a number of case reports with unusual presentations of BAs, including retropharyngeal abscesses, (2,3) pharyngoceles, (4) duplicate ossicles, (5) intrathryoidal lesions, (6-8) an epiglottic cyst, (9) and 2 cases of pharyngeal branchial cysts involving the tonsil. (10) We found two reports of cases involving the oropharynx, (11,12) but no reports of a BA presenting as a posterior oropharyngeal mass, as in our case.

Case report

A 6-year-old girl who had undergone a heart transplant for heart failure presented to the Otolaryngology Department at Rady Children's Hospital in San Diego after the incidental finding of an oropharyngeal mass noted during intubation for a cardiac catheterization. With regards to the mass, the patient was asymptomatic, with no dysphagia or odynophagia and no history of a neck-mass sinus tract or drainage. Her head and neck exam was otherwise unremarkable, and she subsequently underwent laryngoscopy with excisional biopsy of the lesion.

The larynx was noted to be normal. However, a pedunculated mass extending from the right posterior pharyngeal wall was observed (figure 1). The mass was removed without difficulty via electrocautery, and no evidence of an associated sinus tract was found after careful probing of the underlying pharyngeal wall, tonsillar fossa, and pyriform sinuses. The mucosa was then reapproximated with two interrupted #5-0 chromic sutures, and the mass was sent fresh for pathologic evaluation.

Pathology revealed a 1.8 x 1.1 x 0.4-cm mass with squamous mucosa, clusters of seromucinous glands and ducts, reactive lymphocytic hyperplasia with occasional germinal centers, and interspersed chronic inflammatory cells including plasma cells and lymphocytes. A focal cystic lesion lined by ciliated respiratory epithelium was also present, with benign cartilage directly adjacent (figure 2). A pathologic diagnosis of branchial cleft anomaly was given.

In the 8 months after the surgery, there was no recurrence of the lesion.


While the differential diagnosis for a neck mass is extensive, BAs are suggested by their location in the neck and their physical appearance. They are typically painless masses, most commonly noted in the lateral neck along the anterior border of the sternocleidomastoid muscle, and may become acutely enlarged and tender upon secondary infection in association with an upper respiratory tract infection.

In their 5-year review, Kenealy et al reported a 15% rate of misdiagnosis of BAs. (1) Computed tomography, magnetic resonance imaging, ultrasound, and barium swallow can all aid in the diagnosis of BAs; however, a formal diagnosis relies on intraoperative and pathologic findings.

First arch anomalies represent 1 to 8% of all branchial cleft defects, (13,14) can be intimately involved with the facial nerve, and do not typically extend far below the angle of the mandible. Second arch anomalies have been shown to account for as many as 95% of all BAs (1) and occur along a course from the tonsillar fossa internally, to the supraclavicular region of the neck externally. Third and fourth arch anomalies are quite rare, representing 3 to 10% of all cases, (15) and occur along a course from the pyriform sinus to the neck, typically lower in the supraclavicular region than second arch anomalies. BAs track caudal to the derivatives of the involved arch, and dorsal to structural derivatives of the subsequent arch.

Theories regarding the pathogenesis of the various BAs include the incomplete obliteration of the pharyngeal clefts, as suggested by Ascherson in 1832, (16) the precervical sinus theory suggested by His in 1886, (17) the thymopharyngeal theory put forth by Wenglowski in 1912, (18) and cystic degeneration of lymph nodes suggested by Luschka in 1848. (19) While these theories have all been argued, and support exists for each, no single theory appears to account for all BAs, especially the unusual cases.


Several unusual BAs have been reported, including retropharyngeal abscesses, (2,3,20) pharyngoceles, (4) duplicate middle ear ossicles, (5) and intrathyroidal masses and abscesses. (6-8,21 Exophytic masses within the oropharynx that are of branchial arch origin are very rare, with few cases reported in the literature. A rudimentary pinna of second arch origin--attached to both the epiglottis and soft palate without associated cyst, sinus, or fistula-has been described. (9) Ada et al presented a Work type I anomaly which, although stemming from the external auditory canal, extended into the nasopharynx via a tympanic membrane perforation and the eustachian tube. (22)


In 1993, Thaler et al reported 2 pediatric cases of second branchial cleft anomalies manifesting as oropharyngeal masses. (10) This differed from our case in that the cysts were both intimately associated with the tonsil-one with an external sinus tract and one without. In 1998, Paczona et al described two cases of second arch anomalies in the oropharynx. (11) In one, the cyst was located just lateral to the tonsil, and in the other just behind the palatopharyngeal fold. Both were initially misdiagnosed as parapharyngeal-space abscesses. In 2002, Choo et al described a second branchial cleft cyst located just medial to the posterior pillar and separate from the tonsil. (12)

In the above cases, the authors attempted to explain the embryologic pathway as a tangent to the cervical sinus of the His theory, stating that for an epithelium-lined cyst to appear just beneath the endothelium of the tonsil, the branchial plate must have been preserved. This, along with a lack of mesodermic arch interposition, would permit the apposition of the ectoderm and endoderm. Additionally, for the cyst not to appear in its more typical location in the neck, the cervical sinus must have been truncated. This could explain the lesion encountered in this case report, as well, although the location of the mass in the posterior pharyngeal wall, distinctly separate from the tonsillar fossa, is most unusual.

In conclusion, as exemplified by the several debated theories, the embryologic origin of BAs has not yet been proven. Nonetheless, a general understanding is evident regarding how the components of the head and neck anatomy are derived from the branchial apparatus. As with all anatomy, many variations from the textbook norm are possible, and small alterations in a complex process can lead to unusual abnormalities.

Given the complex anatomy of the head and neck, along with the fact that most structures located between the upper aerodigestive tract internally and the skin of the neck externally are derived from the branchial apparatus, it stands to reason that anomalies can present almost anywhere between these two boundaries.


(1.) Kenealy JF, Torsiglieri AJ Jr., Tom LW. Branchial cleft anomalies: A five-year retrospective review. Trans Pa Acad Ophthalmol Otolaryngol 1990;42:1022-5.

(2.) Tsai CC, Lui CC, Chung MY, Ko TY. Branchial-cleft sinus presenting with a retropharyngeal abscess for a newborn: A case report. Am J Perinatol 2003;20(5):227-31.

(3.) Huang RY, Damrose EJ, Alavi S, et al. Third branchial cleft anomaly presenting as a retropharyngeal abscess. Int J Pediatr Otorhinolaryngo12000;54(2-3):167-72.

(4.) Chang CY, Furdyna JA. Bilateral pharyngoceles (branchial cleft anomalies?) and endoscopic surgical considerations. Ann Otol Rhinol Laryngol 2005;114(7):529-32.

(5.) Rockey JG, John DG, Herbetko J. An undescribed first branchial cleft anomaly. J Laryngol Otol 2003;117(6):508-10.

(6.) Sonnino RE, Spigland N, Laberge JM, et al. Unusual patterns of congenital neck masses in children. J Pediatr Surg 1989;24(10):966-9.

(7.) Harding JL, Veivers D, Sidhu SB, et al. Simultaneous branchial cleft and thyroid disorders may present a management challenge. ANZ J Surg 2005;75(9):799-802.

(8.) Liberman M, Kay S, Emil S, et al. Ten years of experience with third and fourth branchial remnants. J Pediatr Surg 2002;37(5):685-90.

(9.) Ahmed KA, Poole MD. Second branchial cleft anomaly presenting as a rudimentary pinna in the nasopharynx of a newborn. Ear Nose Throat J 2004;83(9):637-8.

(10.) Thaler ER, Tom LW, Handler SD. Second branchial cleft anomalies presenting as pharyngeal masses. Otolaryngol Head Neck Surg 1993; 109(5):941-4.

(11.) Paczona R, Jori J, Czigner J. Pharyngeal localizations of branchial cysts. Eur Arch Otorhinolaryngol 1998;255(7):379-381.

(12.) Choo MJ, Kim YJ, Jin HR. A case of second branchial cleft cyst with oropharyngeal presentation. J Korean Med Sci 2002;17(4):564-5.

(13.) Harnsberger HR, Mancuso AA, Muraki AS, et al. Branchial cleft anomalies and their mimics: Computed tomographic evaluation. Radiology 1984;152(3):739-48.

(14.) Jakubikova J, Stanik R, Stanikova A. Malformations of the first branchial cleft: Duplication of the external auditory canal. Int J Pediatr Otorhinolaryngol 2005;69(2):255-61.

(15.) Choi SS, Zalzal GH. Branchial anomalies: A review of 52 cases. Laryngoscope 1995;105(9 Pt 1):909-13.

(16.) Golledge J, Ellis H. The aetiology of lateral cervical (branchial) cysts: Past and present theories. J Laryngol Otol 1994;108(8):653-9.

(17.) His W. Ueber der Sinus praecervicalis und uber die Thymnus anlage. Archiv fur Anatomie und Entwickelungsgeschichte 1886;9:421-33.

(18.) Wenglowski R. Ueber die Halsfisteln und Cysten. Langenbeck Archiv fur Klinische Chirurgie 1912;98:151-208.

(19.) Luschka H. Ueber fistula colli congenita. Archiv fur Physiologische Heilkunde 1848;7:25-7.

(20.) Erisen L, Coskun H, Parlak M, Ozmen A. Fourth branchial arch anomaly and pyriform sinus fistula as a rare cause of recurrent retropharyngeal abscess and thyroiditis in an adult. Otolaryngol Head Neck Surg 2005;133(4):644.

(21.) Shrime M, Kacker A, Bent J, Ward RE Fourth branchial complex anomalies: A case series. Int J Pediatr Otorhinolaryngol 2003;67(11): 1227-33.

(22.) Ada M, Korkut N, Guvenc MG, et al. Unusual extension of the first branchial cleft anomaly. Eur Arch Otorhinolaryngol 2006;263(3): 263-6.

David Mullin, MD; Meredith Merz, MD

From the Department of Head and Neck Surgery, Otolaryngology, Mayo Clinic, Phoenix, Ariz. (Dr. Mullin), and the Department of Otolaryngology, Nationwide Children's Hospital, Columbus, Ohio (Dr. Merz). The case described in this article occurred at Rady Children's Hospital, San Diego, when the authors were located in that city.

Corresponding author: David Mullin, MD, Department of Head and Neck Surgery, Mayo Clinic Phoenix Campus, 5777 E. Mayo Blvd., Phoenix, AZ 85054. Email:
COPYRIGHT 2011 Vendome Group LLC
No portion of this article can be reproduced without the express written permission from the copyright holder.
Copyright 2011 Gale, Cengage Learning. All rights reserved.

Article Details
Printer friendly Cite/link Email Feedback
Author:Mullin, David; Merz, Meredith
Publication:Ear, Nose and Throat Journal
Article Type:Report
Geographic Code:1USA
Date:Dec 1, 2011
Previous Article:Primary sclerosing fibroinflammatory pseudotumor of the maxillary sinus.
Next Article:Dynasplint for the management of trismus after treatment of upper aerodigestive tract cancer: a retrospective study.

Terms of use | Copyright © 2017 Farlex, Inc. | Feedback | For webmasters