A branchial cleft cyst is a congenital anomaly that arises from incomplete shrinkage of branchial clefts during gestation. These cysts manifest as fluid-filled sacs or draining passages on the neck. This article will explore the types, symptoms, diagnosis, and treatment of branchial cleft cysts.
Development of Branchial Cleft Anomalies
During the fourth week of gestation, five branchial arches form, separated by four clefts. These clefts typically shrink by the seventh week. However, if this process is incomplete, branchial cleft anomalies may occur, including cleft lip or palate and branchial cleft cysts.
Branchial cleft anomalies can manifest in three forms:
- Branchial cleft cyst: A sac with a lining but no external opening, potentially filling with fluid.
- Branchial cleft sinus: A cleft that communicates externally with the skin (a punctum) or internally with the pharynx or larynx.
- Branchial cleft fistula: A cleft connecting the pharynx or larynx with the external skin.
A branchial cleft cyst may occur independently or with a sinus tract or fistula, presenting on the right side in 89% of cases. While present at birth, it may not be noticeable until later in life, often becoming apparent when the fluid develops an infection, leading to a tender neck mass.
Types of Branchial Cleft Cysts
There are four types of branchial cleft cysts:
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First branchial cleft cysts: Constituting 5-25% of all branchial cleft anomalies, these have two subtypes:
- Type 1: Opening occurs below or in front of the ear, above the jawline.
- Type 2: More common, occurring below the jawline above the hyoid bone, potentially with an internal opening in the ear canal.
Second branchial cleft cysts: The most common type, affecting 40-95% of anomalies. The opening is located on the front and inner side of the sternocleidomastoid (SCM) muscle. If an internal opening exists, it is likely at the back of the throat near the tonsil region.
Third branchial cleft cysts: Comprising 2-8% of anomalies, the external sinus opening develops over the lower side and front of the SCM muscle. The internal opening connects to the pyriform sinus in the larynx.
Fourth branchial cleft cysts: Extremely rare, accounting for 1% of anomalies, and more common on the left side of the neck. This type may loop around the aortic arch (left-sided anomaly) or the subclavian artery (right-sided anomaly).
Symptoms
Symptoms of a branchial cleft cyst depend on the type and may include a small mass, skin tag, or lump on the side of the neck near the SCM muscle, or a small hole draining fluid or mucus. Cysts can occur at any age but generally do not cause symptoms unless an upper respiratory tract infection occurs. During an infection, they may become tender, swollen, and enlarged with abscess formation. About 25% of individuals with a branchial cleft cyst report a change in size during an infection.
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More concerning symptoms may arise if the cyst compresses the upper airway, leading to:
- Dysphagia (difficulty swallowing)
- Dyspnea (shortness of breath)
- Stridor (wheezing or cracking sounds while breathing)
Children with other congenital abnormalities, particularly those with branchiootorenal syndrome, have a higher risk of branchial cleft abnormalities. These abnormalities can also occur in families as an autosomal dominant trait.
Diagnosis
Doctors typically diagnose a branchial cleft cyst through a physical examination, often during infancy, looking for a skin opening that retracts after swallowing. Lab testing is usually unnecessary.
Imaging tests may be used to identify the cyst's characteristics:
- Dye injection test
- Cervical ultrasound
- Contrast-enhanced CT scan
- MRI
Fine needle aspiration can help determine if the mass is cancerous.
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Treatment
Infected cysts or sinuses may require antibiotic treatment and aspiration. Surgical removal is an elective procedure considered for recurrent infection risk, further enlargement, cosmetic appearance, or the rare risk of malignancy. Immediate surgery may be necessary for large abscesses and compromised airways.
Ethanol ablation is an alternative procedure for individuals unable to undergo surgery, destroying cysts using an alcohol solution.
Repeated infections are common, with recurrence after surgery ranging from 3 to 22%, primarily due to incomplete cyst removal. Other complications include hematoma, seroma, postoperative infection, neck scar, and nerve weakness or paralysis.
Individuals should consult a healthcare professional for any small hole, skin tag, or lump in the neck or upper shoulder, especially if fluid drains from the area or if there are signs of infection.
Frequently Asked Questions
- Is a branchial cleft cyst cancerous? Branchial cleft cysts are typically benign, with cancers arising from them being extremely rare.
- Can a branchial cleft cyst go away on its own? No, surgical removal is required. However, infections can be treated with antibiotics.
Surgical Considerations and Techniques
Definitive treatment for branchial anomalies is surgical excision, indicated for infection, mass effect (dysphagia, dyspnea, pain), or cosmetic reasons. Contraindications include acute infection (treat prior to excision) and medical contraindications to elective surgery.
A branchial anomaly and its associated tract will lie inferior to all embryologic derivatives of its associated arch, and superior to all derivatives of its next arch. First arch anomalies may be intimately associated with the facial nerve, while second arch derivatives are the most common.
Preoperative Preparation
Evaluation involves locating the cystic mass/sinus/fistula and differentiating between first and second/third/fourth branchial cleft derivatives. Radiologic evaluation may be considered for cysts. Facial nerve function should be documented.
Consent should include information on the removal of the cyst and tissues along its tract, potential multiple stair-step incisions, and potential complications such as bleeding, infection, reaction to anesthesia, scarring, and damage to adjacent structures (facial nerve, ear canal scarring, marginal mandibular nerve, hypoglossal nerve, superior laryngeal nerve, glossopharyngeal nerve), and recurrence.
Operative Procedure
First Branchial Cleft Derivatives:
- Examine the ear canal under microscopic visualization to identify a tract.
- Mark incision and approach, as per superficial parotidectomy.
- Use elliptical incision to include any involved skin in the resection.
- Flap elevation and identification of the facial nerve are performed similar to a superficial parotidectomy with specific care taken not to inadvertently divide a tract by dissecting out the Tragal pointer.
- With direct visualization of the facial nerve, excise the cyst and tract along with a small cuff of parotid tissue. A small piece of auricular (canal) cartilage can be resected at the end of the tract.
- Confirm facial nerve integrity with a facial nerve stimulator.
- Irrigate wound and assure hemostasis.
- Place Penrose drains.
- Close in layers.
- Pack canal with Iodoform gauze.
- Apply pressure dressing.
Second, Third, and Fourth Branchial Cleft Derivatives:
- Mark horizontal incision in skin crease and infiltrate with 1% lidocaine with 1:100,000.
- Make a small ellipse around any tract opening; use longer stair-stepped incisions to facilitate complete excision of the tract.
- For cysts, use horizontal incision at or just superior to the cyst.
- Raise subplatysmal flaps.
- Dissect tract superiorly with blunt and sharp dissection.
- Identify superior laryngeal, hypoglossal, and glossopharyngeal nerves as needed to avoid inadvertent injury.
- Irrigate wound and assure hemostasis.
- Place Penrose drains.
- Close in layers.
Postoperative Care
Remove drains when output decreases (individualized - may be as short as one to two days). Advance diet as tolerated. Continue antibiotics postoperatively (as clinically indicated). Encourage topical wound care. Follow-up five to seven days for suture removal. Check pathology of specimen to assure that it is benign.
Fourth Branchial Apparatus Anomalies: A Deeper Dive
Fourth branchial apparatus anomalies are rare and can present as complex cysts, sinuses, and fistulae in the neck, posing management challenges. These anomalies tend to occur predominantly on the left side, with an external orifice on the lower neck in the line of the anterior border of the sternocleidomastoid muscle, and an internal orifice at the pyriform fossa apex (PFA). They can manifest as repeated episodes of neck swelling, abscess formation, and even suppurative thyroiditis.
Diagnosis of Fourth Branchial Apparatus Anomalies
Diagnosis can be challenging and may only result after frequent presentations to medical care. Clinical confirmation can be made by endoscopic visualization of an opening at the PFA. If an internal opening can’t be visualized, differentiation from third branchial apparatus anomalies can only be achieved by intra-operative dissection.
The relationship of the tract to recurrent laryngeal nerve (RLN) and superior laryngeal nerve (SLN) is key in differentiating between third and fourth pouch origins.
Surgical Management of Fourth Branchial Apparatus Anomalies
Surgical management is undertaken in a 2-step fashion during a single operative procedure.
- Direct laryngoscope is deployed to locate and confirm the internal orifice. Then a blunt-tip suction tube is inserted, and methylene blue is injected into it. If external orifice still existed, methylene blue was also injected into it.
- Design of skin incisions depended on cervical scar. In general, the incision was made to contain all scar tissue and elongated bilaterally to allow sufficient flap elevation; if there was no cervical skin involvement, a classic step ladder incision was adopted. Then the anomaly and surrounding inflammatory tissue was dissected together, taking caution to protect the carotid sheath. If the anomaly was found to pass through thyroid gland, then RLN and SLN, especially its external branch, were dissected and protected. Intra-operative nerve monitoring was routinely used to ensure accurate identification and protection of RLN and SLN. Then the anomaly was traced internally to find its entry point into hypopharynx. Occasionally, the posterior part of the thyroid cartilage needed to be removed to gain better exposure, but at least 1 cm above the inferior cornu of the thyroid cartilage should be kept intact to avoid damage to RLN. Now, direct laryngoscope would be deployed again, and a blunt-tip probe would be inserted through the internal orifice to help locate the connection between cervical lesion and hypopharynx in the open cervical surgical field, and we referred to this maneuver as “pharyngeal confirmation”. Then the attachment of the anomaly to the internal orifice at PFA was divided and ligated with purse-string sutures. Inferior pharyngeal constrictor would be used to strengthen the exposed hypopharyngeal wall. At the end of a procedure, the surgical field was irrigated with hydrogen peroxide, and saline. A high negative pressure drain was put in the surgical field, and neck incisions were closed with multi-layered interrupted sutures.
Direct laryngoscopy under general anesthesia is a reliable method of diagnosis for fourth branchial apparatus anomalies.
Post-operative Care for Children
After surgery, the child's activity should be limited to quiet, indoor play for the first day. The child should avoid any activity that could cause the incision to get hit. If the child is on narcotic pain medicine, do not allow him/her to play on riding toys, playground equipment, or climb stairs.
Wound care involves keeping the incision clean and dry. After 24 hours, you may get the incision wet, dry thoroughly after water exposure. The stitches are below the skin and will dissolve over the next few months. The incision will be covered with either tape strips or clear glue-like stuff called collodion, both of which will peel off on their own in about a week. A little redness along the incision is normal for several weeks.
The child may drink clear liquids when fully awake and start a normal diet when hungry and ready to eat.