What is a branchial cleft abnormality?

A branchial cleft abnormality is a mass of abnormally formed tissues within the neck. These tissues may form pockets called cysts that contain fluid, or they may form passages that drain to an opening in the skin surface called fistulas. Branchial cleft abnormalities are usually located near the front edge of the sternocleidomastoid muscle, which is the neck muscle that extends from the mastoid (jawbone) across to the clavicle (collarbone) and sternum (breastbone). Different types of branchial cleft abnormalities include the following:

• Cysts or sinuses. These are deep tissue pockets or cavities containing fluid.
• Fistulas. These are drainage passages from internal tissues to the skin surface.

What causes a branchial cleft abnormality?

A branchial cleft abnormality is a congenital (present from birth) defect that occurs during early embryonic development when the structures and tissues that form the neck and throat do not properly grow together. The tissues form pockets and pathways that contain cells from other parts of the neck and throat. Branchial cleft cysts are lined with skin and lymph cells and contain fluid that is secreted by these cells. Branchial cleft fistulas also contain skin cells but drain mucus and fluids from other internal areas of the neck and throat.

What are the symptoms of a branchial cleft abnormality?

Branchial cleft abnormalities are usually small, but can enlarge enough to cause difficulty swallowing and breathing. The following are the most common symptoms of a branchial cleft abnormality. However, each child may experience symptoms differently. Symptoms may include:

• Small lump or mass to the side of the neck near the front edge of the sternocleidomastoid muscle (usually only on one side of the neck, rarely on both sides; usually painless unless infected)
• Small opening in the skin that drains mucus or fluid near the front edge of the sternocleidomastoid muscle

The symptoms of a branchial cleft abnormality may resemble other neck abnormalities or medical problems. Always consult your child's doctor for a diagnosis.

How is a branchial cleft abnormality diagnosed?

Branchial cleft abnormalities are diagnosed by physical examination. Generally, the specific location of the mass or the fistula opening on the skin can help in the diagnosis. A branchial cleft cyst may not be noticed unless it becomes infected and is painful. The skin opening of a branchial cleft fistula drains mucus, and often pulls back into the skin with swallowing movement.

In addition to a complete medical history and physical examination, diagnostic procedures for a branchial cleft abnormality may include the following:

• Computed tomography scan (also called CT or CAT scan). A diagnostic imaging procedure that uses a combination of X-rays and computer technology to produce horizontal, or axial, images (often called slices) of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general X-rays and are used to determine the exact location and extent of the abnormality.
• Biopsy. A procedure in which tissue samples are removed (with a needle or during surgery) from the body for examination under a microscope.
• Fine needle aspiration of the fluid (for further examination)

Treatment of a branchial cleft abnormality

At The Children’s Hospital of Philadelphia, branchial cleft abnormalities may be treated by an otolaryngologist (ENT) or a general surgeon. Specific treatment will be determined by your child's doctor based on:

• Your child's age, overall health, and medical history
• Extent of the condition
• Your child's tolerance for specific medications, procedures, or therapies
• Expectations for the course of the condition
• Your opinion or preference

Treatment may include surgery to remove the mass. Antibiotics may be required for infections.

The Head and Neck Disorders Program at Children’s Hospital of Philadelphia offers surgical care for children with tumors and congenital anomalies found in the head or neck. Lesions located in a child’s head or neck region may be near the airway, skull base, eyes and many other delicate or vital structures. Management of these lesions requires specialized surgical approaches.