Branchial Cleft Cyst

Coste AH, Lofgren DH, Shermetaro C.

Continuing Education Activity

Branchial cleft cysts, also known as branchial cleft anomalies, are congenital anomalies arising from the first through fourth pharyngeal
pouches. These anomalies can exist as true fistulae, cysts, or sinus tracts, depending on the degree of incomplete obliteration during
embryogenesis. This activity highlights the role of the interprofessional team in the evaluation and management of branchial cleft
anomalies.

Objectives:

Describe the epidemiology and pathophysiology of patients with branchial cleft cysts.
Outline the clinical presentations and evaluation of patients with branchial cleft cysts.
List the treatment options available for patients with branchial cleft cysts.
Explain interprofessional team strategies for enhancing care coordination to facilitate the evaluation and management of
patients with branchial cleft cysts.

Access free multiple choice questions on this topic.

Introduction
Branchial cleft cysts are congenital anomalies arising from the first through fourth pharyngeal clefts. The most common type of
branchial cleft cyst arises from the second cleft, with anomalies derived from the first, third, and fourth clefts being rarer. As this is a
congenital anomaly, it is present at birth, though it may not be obvious or symptomatic until later. The majority of lesions present in
childhood as a visible punctum on the skin though they may present as cysts or neck masses, occasionally mistaken for neck abscesses.
Branchial cleft anomalies present in one of three forms: cysts, sinuses, or fistulae. Cysts have an epithelial lining without external
openings, and as such, may be asymptomatic and only noticed incidentally. Such cysts may not present until adulthood. Sinus tracts may
communicate either externally with skin as a visible punctum or internally with the pharynx or larynx, where the punctate opening will
be visible only on endoscopy. Branchial cleft fistulae are true communications connecting the pharynx or larynx with the external skin.
[1][2][3][4][5]

Etiology
Branchial cleft anomalies form due to the incomplete involution of branchial cleft structures. Around the fourth week of gestation,
neural crest cells migrate into the future head and neck region, where the 6 pairs of branchial (pharyngeal) arches begin to develop. The
mesoderm is covered externally by ectoderm and internally lined by endoderm. Normally there are 5 branchial arches, with the arches
are separated by depressions known as clefts on the ectodermal surface and corresponding pouches on the endodermal surface, yielding
four pharyngeal clefts. The second arch develops caudally and then covers the third and fourth arches. These buried clefts become
ectoderm-lined cavities that normally involute completely by 7 weeks of gestation. If the clefts do not involute or incompletely involute,
these pathological remnants will form cysts, sinuses, or fistulae in predictable locations according to their branchial cleft of origin.[6][7]
[8][9]

First Branchial Cleft Cyst

First cleft cysts make up approximately 5% to 25% of all branchial cleft anomalies and are subclassified via the Work
classification system. Work type I contain ectoderm only and on physical exam show preauricular masses or sinuses
that track anterior and medial to the external auditory canal. These typically present lateral to the facial nerve and end
within the external auditory canal or connect to the umbo of the middle ear, essentially as a duplication of the external
auditory canal. Work type II cysts are more common and contain both ectoderm and mesoderm. These classically
present at the angle of the mandible or within the submandibular region. They can be course either lateral or medial to
the facial nerve and pass superficial (57%), deep (30%), or between (13%) branches of the facial nerve.[10]

Second Branchial Cleft Cyst

 This is the most common branchial cleft cyst, representing approximately 40-95% of branchial anomalies. The
external punctum is found anterior and medial to the sternocleidomastoid (SCM) on the neck skin. Bilateral second
branchial cleft cysts can be associated with branchio-oto-renal syndrome. The course of a second branchial cleft sinus
is as follows: the external opening is located on the neck skin as described above, with the fistula traveling deep to
platysma then passing in between the internal and external carotids, coursing superficial to both glossopharyngeal and
hypoglossal nerves before connecting to the tonsillar fossa. Cysts or sinuses of the second branchial cleft can exist
anywhere along this course.[11][12]

Third Branchial Cleft Cyst

Third branchial cleft cysts are estimated to represent 2-8% of all branchial cleft anomalies. When present, the external
skin opening is seen over the middle to lower third of the anterior SCM. The third branchial cleft sinus course is as
follows: from the skin opening described above, the tract courses deep to platysma and course posterior to the internal
carotid artery. It will pass between the glossopharyngeal and hypoglossal nerves and may be intimately associated
with the superior laryngeal nerve (classically coursing superior to it). It then connects to the pyriform sinus in the
larynx.[13]

Fourth Branchial Cleft Cyst

Fourth cleft cysts are extremely rare, representing approximately 1% of all branchial cleft anomalies. They are
reported more commonly on the left, with the skin opening near the medial lower border of the SCM. The exact
course of the fourth branchial cleft remnant is not as well characterized owing to its rarity. However, it classically
passes deep to the common carotid and can loop around either the aortic arch (in a left-sided anomaly) or the
subclavian (in a right-sided anomaly). These run superficial to the recurrent laryngeal nerve and hypoglossal nerve,
terminating in the apex of the pyriform sinus in the larynx.[13]

Epidemiology
The true incidence of branchial cleft anomalies in the United States is unknown despite their relative frequency. This is likely due to the
variety of both the anomalies and their presentations complicating accurate reporting. There is no ethnic or gender predilection. Most
branchial cleft anomalies arise from the second pouch, while the first, third, and fourth pouches are rare, and 10% of branchial cleft
anomalies are bilateral. These typically present in the first decade of life, but if no external communication is present, the presentation
may be delayed into adulthood.[5]

Pathophysiology
Branchial cleft cysts are embryologic anomalies and are defined by the internal opening of the branchial sinuses arising from incomplete
obliteration in embryogenesis. They may present as fistulae, cysts, sinus tracts, or cartilaginous remnants and clinically encountered on
the anterior neck and upper chest. Lesions presenting below the clavicles are more likely epidermoid or dermoid cysts rather than
branchial remnants. Branchio-oto-renal (BOR) and branchio-oculofacial (BOF) syndromes should be suspected when a patient presents
with preauricular pits or multiple branchial cleft anomalies, including bilateral anomalies. These syndromes are autosomal dominant
conditions associated with hearing loss, ear malformations, and renal anomalies in the BOR syndrome. At the same time, BOF includes
eye anomalies, such as microphthalmia and obstructed lacrimal ducts, and facial anomalies, such as cleft lip and palate.[5]

Histopathology
Branchial cleft cysts are lined with stratified squamous epithelium and may contain keratinous debris inside the cyst. In some cases, the
cyst wall is lined by ciliated columnar epithelium resulting in more mucoid contents. Lymphoid tissue is typically present surrounding
the epithelial lining. If the cyst is infected or ruptured, inflammatory cells can be identified in the cavity or stroma.[5]

History and Physical

Branchial cleft cysts are often asymptomatic but can often become tender, enlarged, or inflamed with superinfection or abscess
formation during episodes of upper respiratory tract infections. The patient can present with purulent drainage of the sinus to the skin or
pharynx in such situations. The most concerning symptoms include dysphagia, dyspnea, and stridor due to cyst compression of the
upper airway.[14] Cystic lesions are more common than fistulae, but they usually present later, usually in the second decade of
life. Cysts most often present as non-tender soft-tissue masses beneath the sternocleidomastoid muscle. However, they may present with
acute infection. Change in size during upper respiratory infections is noted in up to 25%.

The physical examination will differ depending on the location of the branchial cleft cyst.

A first branchial cleft cyst is typically smooth, non-tender, fluctuant mass found between the external auditory canal and
submandibular area. Frequently, it will have a cutaneous punctum from which fluid may be expressed. It is variably involved
with the parotid gland and facial nerve, and there may be a connection to the middle or external ear, so an otologic exam is
crucial in these patients.[15]

A second branchial cleft cyst is typically identified by a pit or punctum of the skin at the lower anterior border of the
sternocleidomastoid. It may connect to the tonsillar fossa of the pharynx. It can be in proximity to the glossopharyngeal and
hypoglossal nerve as well as carotid vessels. The cysts are tender if secondarily infected, and in severe cases, may lead to
airway compromise. If it is associated with a sinus tract, a mucoid or purulent discharge may be present on the skin or into the
pharynx.[16][17]

Third and fourth branchial cleft cysts are rare. They are normally on the left side of the neck or the suprasternal
notch/clavicular area. Typically they present as a firm mass or infected cyst draining to the piriformis sinus or external neck
skin. These fistulae are more likely to present when infected and they may have undergone repeated incision and drainage
procedures owing to incorrect diagnosis and subsequent recurrence.[18]

Evaluation
There is no specific laboratory test needed for evaluation.[17][19][20]

Imaging Studies

If a sinus tract present, a sinogram can be obtained by injecting radiopaque dye to delineate the course and determine the size
of the cyst.
Ultrasonography can be obtained to determine the cystic characteristics of the cyst.[1][19]
Contrast-enhanced CT will depict a cystic and enhanced mass in the neck.[20]
MRI can be used for a finer resolution.[21]

Fine-needle aspiration is helpful to distinguish a branchial cleft cyst from a malignant neoplasm.[16]

Treatment / Management
The treatment of a branchial cleft cyst is elective excision due to the risk of infection, further enlargement, or extremely low risk of
malignancy. So long as there is no airway compromise or frank abscess, there is typically no urgency; clinicians can defer excision
beyond 3 to 6 months of age or allow treatment of an acute infection.[5] However, in the event of airway compromise or large abscess,
emergent surgery may be required.[22][23] Systemic antibiotics and aspiration are generally preferable to incision and drainage, which
might produce more distortion of the surgical planes.[24]

The incision is planned to optimize cosmesis, placing it within a natural skin crease whenever possible. If a fistula or sinus is present,
then identifying the tract by gentle insertion of a probe or catheter is important in order to ensure complete excision and decrease the
chance of recurrence. Methylene blue can be used by dipping a lacrimal probe in the solution and inserting it into the tract to make it
easier to identify intraoperatively. Dissection should be performed carefully over the surface of the lesion as the tract can be thin-walled.
If the track is long, then exposure should be obtained by using a second "stepladder" incision placed within a skin crease cephalad to the
primary incision. In first branchial cleft cysts, initial exposure of the main trunk of the facial nerve and branches should be performed
with a superficial parotidectomy approach to reduce the risk of facial nerve injury, as the anomaly can be intimately associated with the
nerve. Preoperative fistulograms can also be useful.[9][25] In the event that a patient cannot undergo surgery, ethanol ablation has been
used as an alternative in this patient population, though it is not usually recommended as a primary treatment.[9][26]

Third and fourth branchial cleft cysts are treated with a standard transverse cervical incision to identify the recurrent laryngeal nerves,
occasionally requiring thyroid lobectomy to completely excise the tract to the piriform sinus. Before the trans-cervical portion of the
surgery is begun, direct laryngoscopy is performed to confirm the diagnosis and to allow endoscopic cannulation of the opening into the
piriform sinus to facilitate dissection during excision.[5][27]

DiDerential Diagnosis
Differentials include:[1]

Lymphadenopathy
Hemangioma
Carotid body tumor
Cystic hygroma
Ectopic thyroid/salivary tissue
Vascular neoplasm/malformation
Thyroglossal duct cysts
Cat scratch disease
Atypical mycobacterial infections
Cystic squamous cell carcinoma

Prognosis
Patients and families should be educated that branchial cleft cysts are typically benign, and with treatment, patients generally recover
without complications or recurrence.

Complications
Once branchial cleft cysts are excised, recurrence is relatively uncommon. There is an estimated risk of 3%. However, if previous
surgery or recurrent infection has occurred, recurrence can be as high as 20%.[5]

Consultations
An otolaryngologist or pediatric otolaryngologist should be consulted in these cases depending on the age of the patient.

Deterrence and Patient Education

Branchial cleft anomalies are congenital malformations, and currently, there are no preventative measures to reduce the likelihood of
presentation. Patients and physicians should be educated on the symptomatology and physical exam findings that could lead to the early
diagnosis of these lesions. This could reduce the cost of care for the patient, which would otherwise consist of future physician visits,
multiple courses of antibiotics, and diagnostic imaging.

Enhancing Healthcare Team Outcomes

The management of patients with branchial cleft cysts is interprofessional. The surgery is usually performed by an otolaryngologist or,
rarely, by a pediatric surgeon. However, the follow-up may be required by a nurse practitioner, pediatrician, or primary care provider.
Surgery is the only treatment for branchial cleft cysts. Two well-known complications are recurrence and infection. Specialty trained
nurses in the fields of otolaryngology are involved in family education, patient monitoring, and patient feedback. In rare cases, injury to
the facial nerves may also occur, requiring further surgery. The outcomes after branchial cleft cysts are excellent, with a recurrence rate
of about 3% to 7% (Level V).[24][25]

Review Questions
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References
1. Patel S, Bhatt AA. Thyroglossal duct pathology and mimics. Insights Imaging. 2019 Feb 06;10(1):12. [PMC free article:
PMC6365310] [PubMed: 30725193]
2. Bahakim A, Francois M, Van Den Abbeele T. Congenital Midline Cervical Cleft and W-Plasty: Our Experience. Int J Otolaryngol.
2018;2018:5081540. [PMC free article: PMC6304584] [PubMed: 30627168]
3. Banakis Hartl RM, Said S, Mann SE. Bilateral Ear Canal Cholesteatoma with Underlying Type I First Branchial Cleft Anomalies.
Ann Otol Rhinol Laryngol. 2019 Apr;128(4):360-364. [PubMed: 30607978]
4. Meng F, Zhu Z, Ord RA, Zhang T. A unique location of branchial cleft cyst: case report and review of the literature. Int J Oral
Maxillofac Surg. 2019 Jun;48(6):712-715. [PubMed: 30579743]
5. Prosser JD, Myer CM. Branchial cleft anomalies and thymic cysts. Otolaryngol Clin North Am. 2015 Feb;48(1):1-14. [PubMed:
25442127]
6. Tazegul G, Bozoğlan H, Doğan Ö, Sari R, Altunbaş HA, Balci MK. Cystic lateral neck mass: Thyroid carcinoma metastasis to
branchial cleft cyst. J Cancer Res Ther. 2018 Oct-Dec;14(6):1437-1438. [PubMed: 30488872]
7. Oh JH, Chang YW, Lee EJ. Sonographic diagnosis of coexisting ectopic thyroid and fourth branchial cleft cyst. J Clin Ultrasound.
2018 Nov;46(9):582-584. [PubMed: 30288756]
8. Williams DS. Neck Mass in a Five-year-old Afghan Child. J Insur Med. 2018 Jan;47(3):191-193. [PubMed: 30192721]
9. Koch EM, Fazel A, Hoffmann M. Cystic masses of the lateral neck - Proposition of an algorithm for increased treatment efficiency.
J Craniomaxillofac Surg. 2018 Sep;46(9):1664-1668. [PubMed: 29983308]
10. Work WP. Newer concepts of first branchial cleft defects. Laryngoscope. 1972 Sep;82(9):1581-93. [PubMed: 5079586]
11. Bajaj Y, Ifeacho S, Tweedie D, Jephson CG, Albert DM, Cochrane LA, Wyatt ME, Jonas N, Hartley BE. Branchial anomalies in
children. Int J Pediatr Otorhinolaryngol. 2011 Aug;75(8):1020-3. [PubMed: 21680029]
12. Muller S, Aiken A, Magliocca K, Chen AY. Second Branchial Cleft Cyst. Head Neck Pathol. 2015 Sep;9(3):379-83. [PMC free
article: PMC4542795] [PubMed: 25421295]
13. Nicoucar K, Giger R, Pope HG, Jaecklin T, Dulguerov P. Management of congenital fourth branchial arch anomalies: a review and
analysis of published cases. J Pediatr Surg. 2009 Jul;44(7):1432-9. [PubMed: 19573674]
14. Possel L, François M, Van den Abbeele T, Narcy P. [Mode of presentation of fistula of the first branchial cleft]. Arch Pediatr. 1997
Nov;4(11):1087-92. [PubMed: 9488742]
15. Xiao H, Kong W, Gong S, Wang J, Liu S, Shi H. [Surgical treatment of first branchial cleft anomaly]. Lin Chuang Er Bi Yan Hou
Ke Za Zhi. 2005 Oct;19(19):873-4. [PubMed: 16419954]
16. Shen LF, Zhou SH, Chen QQ, Yu Q. Second branchial cleft anomalies in children: a literature review. Pediatr Surg Int. 2018
Dec;34(12):1251-1256. [PubMed: 30251021]
17. Lee DH, Yoon TM, Lee JK, Lim SC. Clinical Study of Second Branchial Cleft Anomalies. J Craniofac Surg. 2018 Sep;29(6):e557-
e560. [PubMed: 29608472]
18. Quintanilla-Dieck L, Penn EB. Congenital Neck Masses. Clin Perinatol. 2018 Dec;45(4):769-785. [PubMed: 30396417]
19. Bansal AG, Oudsema R, Masseaux JA, Rosenberg HK. US of Pediatric Superficial Masses of the Head and Neck. Radiographics.
2018 Jul-Aug;38(4):1239-1263. [PubMed: 29995618]
20. Friedman E, Patiño MO, Udayasankar UK. Imaging of Pediatric Salivary Glands. Neuroimaging Clin N Am. 2018 May;28(2):209-
226. [PubMed: 29622115]
21. Brown RE, Harave S. Diagnostic imaging of benign and malignant neck masses in children-a pictorial review. Quant Imaging Med
Surg. 2016 Oct;6(5):591-604. [PMC free article: PMC5130564] [PubMed: 27942480]
22. Prada LR, Koripalli VS, Merino CL, Fulger I. A Case of a Rapidly Enlarging Neck Mass with Airway Compromise. J Clin Diagn
Res. 2017 May;11(5):OD14-OD16. [PMC free article: PMC5483736] [PubMed: 28658834]
23. Schmidt K, Leal A, McGill T, Jacob R. Rapidly enlarging neck mass in a neonate causing airway compromise. Proc (Bayl Univ
Med Cent). 2016 Apr;29(2):183-4. [PMC free article: PMC4790565] [PubMed: 27034563]
24. Mattioni J, Azari S, Hoover T, Weaver D, Chennupati SK. A cross-sectional evaluation of outcomes of pediatric branchial cleft cyst
excision. Int J Pediatr Otorhinolaryngol. 2019 Apr;119:171-176. [PubMed: 30735909]
25. Ahn D, Lee GJ, Sohn JH. Comparison of the Retroauricular Approach and Transcervical Approach for Excision of a Second
Brachial Cleft Cyst. J Oral Maxillofac Surg. 2017 Jun;75(6):1209-1215. [PubMed: 28061361]
26. Ha EJ, Baek SM, Baek JH, Shin SY, Han M, Kim CH. Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts. AJNR
Am J Neuroradiol. 2017 Dec;38(12):2351-2356. [PMC free article: PMC7963744] [PubMed: 28970243]
27. Teng SE, Paul BC, Brumm JD, Fritz M, Fang Y, Myssiorek D. Endoscope-assisted approach to excision of branchial cleft cysts.
Laryngoscope. 2016 Jun;126(6):1339-42. [PubMed: 26466762]
Publication Details

Author Information

Authors

Anouchka H. Coste1; Daniel H. Lofgren2; Carl Shermetaro3.

ALliations

1 Einstein College of Medicine/MonteMore

2 McLaren Oakland Hospital

3 Mclaren Oakland Hospital

Publication History

Last Update: July 18, 2021.

Copyright
Copyright © 2021, StatPearls Publishing LLC.

This book is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits
use, duplication, adaptation, distribution, and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, a
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Publisher

StatPearls Publishing, Treasure Island (FL)

NLM Citation

Coste AH, Lofgren DH, Shermetaro C. Branchial Cleft Cyst. [Updated 2021 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-.