Branchial Cleft Cyst

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Background

Branchial cleft cysts are congenital epithelial cysts, which arise on the lateral part of the neck from a failure of obliteration of the second branchial cleft in embryonic development.[1]

Phylogenetically, the branchial apparatus is related to gill slits. In fish and amphibians, these structures are responsible for the development of the gills, hence the name branchial (branchia is Greek for gills).

Pathophysiology

At the fourth week of embryonic life, the development of 4 branchial (or pharyngeal) clefts results in 5 ridges known as the branchial (or pharyngeal) arches, which contribute to the formation of various structures of the head, the neck, and the thorax. The second arch grows caudally and, ultimately, covers the third and fourth arches. The buried clefts become ectoderm-lined cavities, which normally involute around week 7 of development. If a portion of the cleft fails to involute completely, the entrapped remnant forms an epithelium-lined cyst with or without a sinus tract to the overlying skin.[2, 3, 4, 5]

Epidemiology

Frequency

United States

The exact incidence of branchial cleft cysts in the US population is unknown. Branchial cleft cysts are the most common congenital cause of a neck mass. An estimated 2-3% of cases are bilateral. A tendency exists for cases to cluster in families.[6]

Mortality/Morbidity

Many branchial cleft cysts are asymptomatic. They may become tender, enlarged, or inflamed, or they may develop abscesses, especially during periods of upper respiratory tract infection, due to the lymphoid tissue located beneath the epithelium. Spontaneous rupture of an abscessed branchial cleft cyst may result in a purulent draining sinus to the skin or the pharynx.

Depending on the size and the anatomical extension of the mass, local symptoms, such as dysphagia, dysphonia, dyspnea, and stridor, may occur.

Race

No ethnic predilection has been reported for branchial cleft cysts.

Sex

No sexual predilection is recognized for branchial cleft cysts.

Age

Branchial cleft cysts are congenital in nature, but they may not present clinically until later in life, usually by early adulthood.

History

A branchial cyst commonly presents as a solitary, painless mass in the neck of a child or a young adult. A history of intermittent swelling and tenderness of the lesion during upper respiratory tract infection may exist. Discharge may be reported if the lesion is associated with a sinus tract.

In some instances, branchial cleft cyst patients may present with locally compressive symptoms. A family history of branchial cleft cysts may be present.

Physical

Primary branchial cleft cyst lesion: Branchial cysts are smooth, nontender, fluctuant masses, which occur along the lower one third of the anteromedial border of the sternocleidomastoid muscle between the muscle and the overlying skin.

Secondary branchial cleft cyst lesion: The lesion may be tender if secondarily inflamed or infected. When associated with a sinus tract, mucoid or purulent discharge onto the skin or into the pharynx may be present.

Rarely, branchial cleft cysts may present as fluctuant nodules on the thorax.[7]

Causes

The branchial cleft cyst is a congenital lesion formed by incomplete involution of branchial cleft structures during embryonic development.

Laboratory Studies

No specific laboratory investigations need to be obtained in the workup of a branchial cleft cyst.

Imaging Studies

A sinogram may be obtained. If a sinus tract exists, radiopaque dye can be injected to delineate the course and to examine the size of the cyst.

Ultrasonography helps to delineate the cystic nature of these lesions.[8]

A contrast-enhanced CT scan shows a cystic and enhancing mass in the neck. It may aid preoperative planning and identify compromise of local structures. Note the images below.


View Image

First branchial cleft cyst, type II. Contrast-enhanced axial computed tomography scan at the level of the hyoid bone reveals an ill-defined, nonenhanc....


View Image

Second branchial cleft cyst. Contrast-enhanced axial computed tomography scan at the level of the hyoid bone reveals a large, well-defined, nonenhanci....

MRI allows for finer resolution during preoperative planning. The wall may be enhancing on gadolinium scans.[8]

Other Tests

No other investigations are needed beyond routine preoperative workup.

Procedures

Fine-needle aspiration may be helpful to distinguish branchial cleft cysts from malignant neck masses.[9] Fine-needle aspiration and culture may help guide antibiotic therapy for infected cysts.

Histologic Findings

Most branchial cleft cysts are lined with stratified squamous epithelium with keratinous debris within the cyst. In a small number, the cyst is lined with respiratory (ciliated columnar) epithelium. Lymphoid tissue is often present outside the epithelial lining. Germinal center formation may be seen in the lymphoid component, but true lymph node architecture is not seen. In infected or ruptured lesions, inflammatory cells are seen within the cyst cavity or the surrounding stroma.

Medical Care

Antibiotics are required to treat infections or abscesses related to branchial cleft cysts.

Surgical Care

Surgical excision is definitive treatment for branchial cleft cysts.[10] A series of horizontal incisions, known as a stairstep or stepladder incision, is made to fully dissect out the occasionally tortuous path of the branchial cleft cysts. Branchial cleft cyst surgery is best delayed until the patient is at least age 3 months. Definitive branchial cleft cyst surgery should not be attempted during an episode of acute infection or if an abscess is present. Surgical incision and drainage of abscesses is indicated if present, usually along with concurrent antimicrobial therapy.

The traditional surgical approach has the main downfall of relatively significant scarring. Alternatives to the open surgical method have been proposed, including a retroauricular approach, a facelift approach, and endoscopic-assisted removal. All of the newer surgical methods may be limited in the full visualization of the lesion. A recent case-controlled study suggested that an endoscopic retroauricular approach may provide good surgical clearing with minimal scarring for second branchial cleft cysts.[11]

Sclerotherapy with OK-432 (picibanil) has been reported to be an effective alternative to surgical excision of branchial cleft cysts by some groups.[12]

Consultations

Referral to an otolaryngologist for surgical excision is indicated.

Further Outpatient Care

Postoperatively, patients should be monitored for branchial cleft cyst recurrence. Because some patients have bilateral branchial cleft cyst lesions, the contralateral side should be examined.

Complications

Untreated branchial cleft cyst lesions are prone to recurrent infection and abscess formation with resultant scar formation and possible compromise to local structures.

Complications of surgical excision of branchial cleft cysts result from damage to nearby vascular or neural structures, which include carotid vessels and the facial, hypoglossal, vagus, and lingual nerves.

There are rare case reports of malignancies having been identified in branchial cleft lesions, including branchiogenic carcinoma and papillary thyroid carcinoma.

Prognosis

Following surgical excision of branchial cleft cysts, recurrence is uncommon, with a risk estimated at 3%, unless previous surgery or recurrent infection has occurred, in which case, it may be as high as 20%.

Author

Chih-Ho Hong, MD, FRCPC, Clinical Assistant Professor, Department of Dermatology and Skin Science, University of British Columbia, Canada

Disclosure: Nothing to disclose.

Coauthor(s)

Richard Crawford, MD, FRCPC, Head of Dermatology, Clinical Professor, Department of Medicine, Divisions of Pathology and Dermatology, University of British Columbia

Disclosure: Nothing to disclose.

Specialty Editors

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Disclosure: Nothing to disclose.

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Disclosure: Nothing to disclose.

Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

Disclosure: Elsevier Royalty Other

References

  1. Wagner AM, Hansen RC. Neonatal skin and skin disorders. In: Schachner LA, Hansen RC, eds. Pediatric Dermatology. Vol 1. 2nd ed. New York, NY: Churchill Livingston; 1995:291-3.
  2. Doi O, Hutson JM, Myers NA, McKelvie PA. Branchial remnants: a review of 58 cases. J Pediatr Surg. Sep 1988;23(9):789-92. [View Abstract]
  3. Little JW, Rickles NH. The histogenesis of the branchial cyst. Am J Pathol. Mar 1967;50(3):533-47. [View Abstract]
  4. Rickles NH, Little JW. The histogenesis of the branchial cyst. II. A study of the lining epithelium. Am J Pathol. May 1967;50(5):765-77. [View Abstract]
  5. Telander RL, Deane SA. Thyroglossal and branchial cleft cysts and sinuses. Surg Clin North Am. Aug 1977;57(4):779-91. [View Abstract]
  6. Anand TS, Anand CS, Chaurasia BD. Seven cases of branchial cyst and sinuses in four generations. Hum Hered. 1979;29(4):213-6. [View Abstract]
  7. Vemula R, Greco G. An unusual presentation of presentation of a branchial cleft cyst. J Craniofac Surg. May 2012;23(3):e270-2. [View Abstract]
  8. Bloch R. Images in emergency medicine. Branchial cleft cyst. Ann Emerg Med. Mar 2006;47(3):291, 308. [View Abstract]
  9. Rosa PA, Hirsch DL, Dierks EJ. Congenital neck masses. Oral Maxillofac Surg Clin North Am. Aug/2008;20:339-52. [View Abstract]
  10. Donegan JO. Congenital neck masses. In: Cummings CW, Schuller DE, eds. Otolaryngology - Head and Neck Surgery. 2nd ed. St. Louis, Mo: Mosby; 1993:1554-9.
  11. Chen LS, Sun W, Wu PN, Zhang SY, Xu MM, Luo XN, et al. Endoscope-assisted versus conventional second branchial cleft cyst resection. Surg Endosc. May 2012;26(5):1397-402. [View Abstract]
  12. Kim MG, Kim SG, Lee JH, Eun YG, Yeo SG. The therapeutic effect of OK-432 (picibanil) sclerotherapy for benign neck cysts. Laryngoscope. Dec 2008;118(12):2177-81. [View Abstract]

First branchial cleft cyst, type II. Contrast-enhanced axial computed tomography scan at the level of the hyoid bone reveals an ill-defined, nonenhancing, water attenuation mass (m) posterior to the right submandibular gland (g).

Second branchial cleft cyst. Contrast-enhanced axial computed tomography scan at the level of the hyoid bone reveals a large, well-defined, nonenhancing, water attenuation mass (m) on the anterior border of the left sternocleidomastoid muscle(s).

First branchial cleft cyst, type II. Contrast-enhanced axial computed tomography scan at the level of the hyoid bone reveals an ill-defined, nonenhancing, water attenuation mass (m) posterior to the right submandibular gland (g).

Second branchial cleft cyst. Contrast-enhanced axial computed tomography scan at the level of the hyoid bone reveals a large, well-defined, nonenhancing, water attenuation mass (m) on the anterior border of the left sternocleidomastoid muscle(s).