What is the presentation of a first branchial cleft (branchial cleft anomaly) cyst?

From the Guidelines

First branchial cleft cysts typically present as painless, soft, fluctuant masses located anterior to the ear, below the mandible, or in the lateral upper neck, and their diagnosis and management should prioritize ruling out malignant processes, especially in adults over 40 years old, as the incidence of cancer in a cystic neck mass increases to 80% in this age group 1. When evaluating a cystic neck mass, it is crucial to consider the possibility of malignancy, as up to 62% of neck metastases from Waldeyer ring sites can be cystic, and 10% of malignant cystic neck masses may present without an obvious primary tumor 1. Key characteristics of first branchial cleft cysts include:

• Location: anterior to the ear, below the mandible, or in the lateral upper neck
• Presentation: painless, soft, fluctuant masses that may become tender, inflamed, or infected
• Demographics: more common in females, often becoming apparent in early to middle adulthood
• Diagnosis: physical examination, imaging studies (ultrasound, CT, or MRI), and sometimes fine-needle aspiration
• Treatment: complete surgical excision to prevent recurrent infections and potential complications, with careful dissection due to close relationships with the facial nerve It is essential to approach these cases with a high index of suspicion for malignancy, especially in older adults, and to utilize imaging characteristics suggestive of malignant processes to guide further evaluation and management 1.

From the Research

Presentation of First Branchial Cleft Cyst

• The presentation of a first branchial cleft cyst can vary, but it is typically characterized as a solitary, painless mass in the neck of a child or young adult 2.
• First branchial cleft cysts can be divided into two types: type I and type II, with type II being more common 3.
• Type I anomalies are purely ectodermal and appear histologically as cysts lined by squamous epithelium, presenting as a cystic mass or fistula posterior to the pinna and concha 3.
• Type II anomalies exhibit ectodermal and mesodermal elements, containing skin, adnexal structures, and cartilage, and may be associated with the parotid gland 3.
• First branchial cleft cysts can be located in various areas, including the neck, posterior to the pinna and concha, and may be associated with fistulae in the concha or external auditory canal 3.
• The clinical presentation of a first branchial cleft cyst can be similar to other swellings of oral or paraoral origin, making accurate diagnosis crucial for appropriate treatment 2, 4.

Diagnosis and Treatment

• Accurate diagnosis of a first branchial cleft cyst is essential to ensure proper treatment, which typically involves surgical excision 2, 4.
• Imaging studies can be used to assess the extent of the lesion before definitive surgical treatment 4.
• If the cysts are excised properly, recurrence is rare 2, 4.
• In some cases, first branchial cleft cysts may be associated with unusual anatomical relationships, such as a duplicated facial nerve trunk 5.
• Effective surgical approaches, such as complete removal with preservation of the facial nerve, can be used to manage recurrent first branchial cleft fistula with cysts 6.