Branchial Cleft Cyst 

Branchial Cleft Cyst – 5 Interesting Facts

1. Branchial cleft cyst (also known as a benign cervical lymphoepithelial cyst) is a congenital abnormality typically located in the lateral neck along the anterior portion of the sternocleidomastoid muscle
2. Most common congenital lateral neck mass and second most common pediatric neck mass (after thyroglossal duct cysts)
3. Most commonly presents as painless neck mass in a child or young adult; anatomic location varies depending on the type of branchial cleft abnormality
4. Diagnose on basis of history, physical examination findings, and imaging studies; use fine-needle aspiration cytology if there is risk for malignancy and the diagnosis remains uncertain
5. Complete surgical excision is the mainstay of treatment; surgical approach depends on the type of branchial cleft anomaly

Pitfalls

• Adequate treatment of an infected cyst is required before surgical excision to reduce risk of cyst recurrence after surgery

Introduction

• Branchial cleft cyst (also known as a benign cervical lymphoepithelial cyst) is a congenital abnormality typically located in the lateral neck along the anterior portion of the sternocleidomastoid muscle ¹
• Accounts for 20% of neck masses in children ²
  • Most common congenital lateral neck mass and second most common pediatric neck mass (after thyroglossal duct cysts) ²

Classification

• Branchial cleft anomalies may take the following forms:
  • Cyst ³
    • Epithelial-lined cavity that has no connection to the skin or pharynx
  • Sinus ⁴
    • Blind-ending tract that may connect with either skin or pharynx
      • Branchial cleft sinuses connect with skin
      • Branchial pouch sinuses connect with pharynx
  • Fistula ⁴
    • A communication between 2 epithelialized surfaces with internal and external openings
    • A branchial fistula consists of a communication between a persistent pouch and a cleft
• Common classification schemes are based on the embryonic origin of the branchial cyst/anomaly
  • First branchial cleft cyst
    • Second most common presentation (1%-4%) ⁴
    • Can present with recurrent preauricular swelling, upper neck swelling, or otorrhea ³
    • Classified into 2 subtypes: ⁵
      • Type I: lined by ectodermal components; takes the form of a cyst ⁴
      • Type II: contains both ectodermal and mesodermal components; may take the form of a cyst, sinus, or fistula tract
  • Second branchial cleft cyst
    • Most common presentation associated with branchial cleft anomalies, accounting for up to 95% of cases ⁴
    • Most commonly presents with a cystic neck mass located deep to the sternocleidomastoid muscle ³
    • Bailey classification scheme has historically been used to describe these lesions, differentiated based on location: ⁶
      • Type I: most superficial; lies on anterior margin of sternocleidomastoid muscle deep to the platysma muscle
      • Type II: most common; located along the anterior margin of sternocleidomastoid muscle, lateral to the carotid space, and posterior to submandibular glands
      • Type III: extends medially between the carotid bifurcation and wall of pharynx
      • Type IV: lies in the pharyngeal mucosal space
  • Third branchial cleft cyst
    • Rare ⁴
    • Most third branchial cleft anomalies are sinuses ⁴
    • Can present with a mass deep to the sternocleidomastoid but is typically lower ³
  • Fourth branchial cleft cyst
    • Very rare ⁴
    • Most fourth branchial cleft anomalies are sinuses ⁴
    • Presents with recurrent lower neck or upper chest infections ³

Diagnosis

Clinical Presentation

• Illustration depicting the differences between type I and II first branchial cleft anomalies.From Olivas AD et al: First branchial cleft anomalies. Oper Tech Otolaryngol Head Neck Surg. 28(3)151-5, 2017, Figure 4.
• Second, third, and fourth branchial anomalies. – A, Second branchial anomaly. B, Third branchial anomaly. C, Fourth branchial anomaly. IX, glossopharyngeal nerve; XII, hypopharyngeal Nerve; Sup. Lar., superior laryngeal nerve; EC, external carotid artery; IC, internal carotid artery; CC, common carotid artery.From Hamilton S et al: Branchial cleft cysts and sinuses. In Myers EN et al, eds: Operative Otolaryngology Head and Neck Surgery. 3rd ed. Elsevier; 2018:201,1415-22.e1, Figure 201.3.

History

• Most common presentation is a painless neck mass in a child or young adult ⁷
• Large cysts may be associated with dysphagia, dyspnea, and stridor
• Infection or hemorrhage within a cyst can lead to rapid enlargement, worsening pain, or abscess formation ³
• External drainage from a skin opening may occur if there is a sinus tract or fistula
• Anatomic location varies depending on the type of branchial cleft abnormality ³
  • Second and third branchial cleft cysts present similarly with a mass located deep to the sternocleidomastoid muscle
  • First branchial cleft anomalies may present with preauricular swelling, upper neck swelling, or otorrhea
  • Fourth branchial cleft cysts and sinuses present with recurrent lower neck or upper chest infections

Physical examination

• Examination of the neck typically reveals a nontender mass, usually in the anterior cervical triangle between the preauricular region and the supraclavicular fossa
  • Second and third branchial cleft cysts are located similarly deep to the sternocleidomastoid muscle
    • However, third branchial cleft cysts tend to be left sided and may be closely related to the thyroid gland ³
  • Edema, erythema, or external drainage may occur if infection is present
• Preauricular swelling, upper neck swelling, or otorrhea with a normal tympanic membrane is suggestive of a first branchial cleft cyst ³

Causes

• Aberrant development of the mesodermal arches that appear on the superior-lateral aspects of the developing fetus (called the branchial apparatus), or incomplete obliteration of the clefts and grooves that divide them, can lead to a variety of anomalies (eg, branchial cysts, sinuses, fistulae) ³

Risk factors and/or associations

Age

• Cysts typically present in childhood and early adulthood (usually after cyst becomes infected) ⁷
  • Age at diagnosis ranges from 10 to 50 years

Sex

• No sex predilection is associated with branchial cleft cysts ⁸

Genetics

• Most occur sporadically ³
• A minority of cysts are associated with a syndrome, most commonly branchio-oto-renal syndrome
  • Branchio-oto-renal syndrome consists of bilateral branchial cleft anomalies, bilateral preauricular pits, and renal anomalies ³ and is inherited in an autosomal dominant manner

Diagnostic Procedures

Primary diagnostic tools

• Suspect diagnosis on basis of history, physical examination findings, and imaging studies
  • Various imaging techniques can be used to aid in diagnosis and preoperative localization of the lesion in relation to critical neck structures ³
  • American College of Radiology considers ultrasonography, contrast-enhanced CT, and MRI with or without IV contrast media to be appropriate imaging studies ⁹
  • Ultrasonography is typically the initial imaging modality performed to evaluate a neck mass in a child
• Perform fine-needle aspiration if there is risk for malignancy and the diagnosis of the neck mass remains uncertain ¹⁰
  • Particularly important in patients older than 35 years, in whom a cystic lateral neck mass should be considered potentially malignant ¹¹
• Perform excisional biopsy if there is concern that a lateral neck mass is not a branchial cyst based on clinical, imaging, or cytologic features ¹²
  • This should follow a full preoperative workup for malignancy, including neck CT and endoscopic evaluation of the upper aerodigestive tract (under anesthesia) ^10 12
• Definitive diagnosis is based on histopathologic examination of surgically resected tissue ³

Imaging

• Ultrasonography
  • Typically the initial imaging performed for evaluation of a neck mass in children
  • Provides information about lesion size, location, and whether it is cystic or solid in nature; can also assess for vascular flow with Doppler ¹³
  • Does not require sedation or IV contrast material, is easily accessible, and does not involve exposure to ionizing radiation
  • Ultrasonogram usually shows a round mass with uniform low echogenicity and an absence of internal septations with no acoustic enhancement ⁶
• Contrast material–enhanced CT
  • Multidetector CT with contrast material is the preferred initial modality for evaluating adults with a neck mass
    • Not first line modality for children, as it may require sedation and involves exposure to ionizing radiation
  • Provides high-resolution delineation of anatomy, osseous structures, and airspaces; also detects calcification and fat ¹³
  • Branchial cleft cysts appear as well-circumscribed lesions with thin walls and central mucous attenuation ³
    • When infection is present, cyst may have a thickened, irregular, enhancing wall with inflammatory changes in the surrounding tissues
• MRI ¹³
  • Can be complementary to CT with contrast material for evaluating neck masses in adults or children ¹³
  • Superior to CT for soft tissue characterization, which, along with absence of radiation exposure, make it the primary choice of some centers ³
    • Disadvantages are cost and need for sedation in most children
  • Branchial cleft cysts appear as cystic lesions with low to intermediate T1-weighted and high T2-weighted signal intensity ³

Procedures

• Collection of fluid from cystic lesion under ultrasonographic guidance for microscopic examination
• To exclude malignant or inflammatory process and confirm diagnosis of branchial cleft cyst
• No absolute contraindications ¹²
• Caution is advised during procedure to decrease the risk of anatomical structure damage, and in patients with coagulopathy ¹⁴
• Cytologic examination differentiates branchial cleft cysts from malignancies (eg, squamous cell carcinoma metastases and benign salivary gland tumors from benign lesions) ¹⁵
• Overall accuracy of cytology in predicting a benign branchial cyst histopathologically is over 80% ¹²

Differential Diagnosis

Most common

• Cystic hygroma of the neck (also known as cystic lymphangioma) ²
  • Benign congenital lymphatic malformation
  • May be associated with genetic syndromes, such as Turner syndrome, Noonan syndrome, and other chromosomal abnormalities (eg, trisomy 13, 18, and 21) ²
    • Can also be acquired secondary to infection or trauma
  • Presents as a large soft neck mass that can be transilluminated ²
  • More frequent in infants and children; rarely found in adults ²
  • Differentiate based on clinical and radiologic findings ¹⁶
• Squamous cell carcinoma¹⁷
  • Squamous cell carcinoma of head and neck may present with a neck mass reflecting lymph node metastasis, often from a clinically silent primary site
  • Risk is greatest in adults older than 40 years presenting with a neck mass ¹⁶
  • Known risk factors include alcohol use, tobacco use, and HPV infection ¹⁶
  • May be accompanied by symptoms associated with primary tumor (eg, hoarseness, dysphagia, otalgia)
  • Differentiate based on clinical and radiologic findings and/or cytologic or histopathologic examination of fluid or tissue specimen
• Thyroglossal duct cyst¹³
  • The most common type of midline neck mass, arising from abnormal remnant thyroglossal duct cells that persist after formation of the thyroid gland during fetal development
  • Typically presents as a painless anterior midline neck mass, most often in childhood or adolescence
  • Cyst is visible with an extended neck and typically moves with swallowing and tongue protrusion ¹⁶
  • Differentiate based on clinical and radiologic findings and histopathologic examination of removed tissue
• Lymphadenopathy involving submandibular or upper cervical lymph nodes ¹⁸
  • Most common cause of neck masses in children; can result from an infectious or an inflammatory process
  • Typically presents with tender and mobile neck mass or masses ¹⁸
  • May be associated with a recent illness or treatment, recent travel, or exposure to an animal ¹⁸
  • Associated symptoms may include fever, anorexia, weight loss, night sweats, and fatigue ¹⁸
    • Purulent drainage can be present in the case of bacterial infection ²
  • Differentiate based on clinical context, laboratory test findings, and radiologic findings; fine-needle aspiration and histopathologic examination of removed tissue may be required if diagnosis remains uncertain
• Epidermoid cyst
  • Benign cyst caused by implantation of epidermis into dermis
  • Can present as a nonpainful anterior neck mass in any location
  • Tends to be superficially located in dermis or subcutaneous tissue
  • Differentiate based on clinical and radiologic findings and histopathologic examination of removed tissue

Treatment Goals

• Removal and prevention of recurrence

Disposition

Admission criteria

• Admit for elective surgical excision of cyst (or can be performed as an outpatient procedure)
• Admit for urgent surgical decompression if cyst is compromising airway

Recommendations for specialist referral

• Refer to an otolaryngologist to establish diagnosis
• Refer to a head and neck surgeon for surgical excision of cyst

Treatment Options

Complete surgical excision is the mainstay of treatment and is recommended in all cases ¹

• Surgical approach depends on the type of branchial cleft anomaly; most cases involve open surgical dissection and complete excision of the cyst and fistula tract, if present ¹
  • May require hemithyroidectomy if tract courses close to or through the thyroid gland ³
  • May require removal of part or all of the superficial lobe of the parotid gland in case of first branchial cleft cyst ³
  • Most common complication is recurrence, which is more likely to occur in those with a history of surgery or infection ¹⁹
• Treat acute or chronically infected branchial cleft cyst with empiric antibiotics before surgical resection
  • Empiric treatment consists of broad-spectrum antibiotics directed at oropharyngeal flora (eg, Haemophilusinfluenzae, Staphylococcusaureus, Streptococcus epidermidis) ²⁰
    • Oral amoxicillin-clavulanate or cephalexin may be used
  • Needle aspiration (under ultrasonographic guidance if needed) can be performed to identify the infecting organism and guide antibiotic therapy if cyst is unresponsive to initial therapy ³
  • Incision and drainage may be required in case of infection refractory to antibiotic treatment; however, this can make the definitive surgical treatment more difficult ³
  • Definitive surgery is performed once infection has resolved

Drug therapy

• Empiric antibiotic therapy
  • Penicillin and β-lactam inhibitors
    • Amoxicillin and clavulanate ²¹
      • Amoxicillin Trihydrate, Clavulanate Potassium Oral suspension; Neonates and Infants 1 to 2 months: 30 mg/kg/day amoxicillin component PO divided every 12 hours; only 125 mg/5 mL suspension is recommended in this age group.
      • Amoxicillin Trihydrate, Clavulanate Potassium Oral suspension; Infants 3 months and older, Children, and Adolescents weighing less than 40 kg (every 12 hour regimens): FDA approved dosages are 25 mg/kg/day amoxicillin component PO divided every 12 hours for mild/moderate infections and 45 mg/kg/day amoxicillin component PO divided every 12 hours for severe infections (using 200 mg/5 mL or 400 mg/5 mL suspension; 200 mg or 400 mg chewable tablets). The every-12 hour regimen is preferred in children because it causes less diarrhea.
      • Amoxicillin Trihydrate, Clavulanate Potassium Oral tablet; Adults, Adolescents, and Children weighing 40 kg or more (every 12 hour regimens): FDA-approved dosages are 500 mg amoxicillin with 125 mg clavulanic acid PO every 12 hours (using 500 mg regular tablets; 125 mg or 250 mg chewable tablets; or 125 mg/5 mL or 250 mg/5 mL suspension) for mild/moderate infections and 875 mg amoxicillin with 125 mg clavulanic acid PO every 12 hours (using 875 mg tablet; 200 mg/5 mL or 400 mg/5 mL suspension) for severe infections.
  • Cephalosporins
    • Cephalexin ²²
      • Cephalexin Monohydrate Oral suspension; Children and Adolescents: FDA-approved dosage is 25 to 50 mg/kg/day PO in 2 to 4 divided doses (Max: 2 g/day); for severe infections, 50 to 100 mg/kg/day PO in 3 to 4 divided doses (Max: 4 g/day) may be used.
      • Cephalexin Monohydrate Oral capsule; Adults: FDA-approved dosage is 1 to 4 g daily, divided in 2 to 4 doses. Generally 250 mg PO every 6 hours or 500 mg PO every 12 hours; higher doses for severe infections. Max: 4 g/day.

Nondrug and supportive care

Procedures

Surgical excision of cyst

General explanation

• Complete surgical removal of branchial cleft cyst with preservation of the surrounding blood vessels and nerves, using a cosmetically acceptable approach ¹⁹
  • May require hemithyroidectomy if tract courses close to or through the thyroid gland
  • May require removal of part or all of the superficial lobe of the parotid gland in case of first branchial cleft cyst

Indication

• All branchial cleft cysts are typically resected unless patient is not a surgical candidate

Contraindications

• Relative ¹⁹
  • Infected cyst: treat first with antibiotic therapy
  • Cyst with abscess: treat first with drainage and antibiotic therapy

Complications

• Nerve injury
• Postoperative airway obstruction due to hematoma

Comorbidities

• Since branchial cleft anomalies can present as cysts, sinus tracts, or fistulae, these conditions may coexist ²³
  • Can present with drainage and compressive symptoms
  • Complete excision of the cyst and tract is necessary when the 2 coexist

Monitoring

• Follow-up varies with individual cases and may include physical examination and imaging studies

Complications

• Infection or abscess
• Discharging sinuses
• Cyst recurrence after surgical excision

Prognosis

• Branchial cleft cysts are benign lesions; however, they do not spontaneously subside and may be complicated by recurrent infections if not surgically excised
• Recurrence rates after surgical excision may vary according to type of cyst, clinical context, and surgical technique
  • Recurrence is more common with first, third, and fourth types of branchial cleft anomalies
  • A large series-reported recurrence was found in 21% of patients with a history of surgery, 14% of those with a history of infection, and 3% of those with no prior infection or surgery ¹⁹

References

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