A branchial cleft cyst is a

cyst A cyst is a closed sac, having a distinct envelope and division compared with the nearby tissue. Hence, it is a cluster of cells that have grouped together to form a sac (like the manner in which water molecules group together to form a bubble ...

as a swelling in the upper part of neck anterior to

sternocleidomastoid The sternocleidomastoid muscle is one of the largest and most superficial cervical muscles. The primary actions of the muscle are rotation of the head to the opposite side and flexion of the neck. The sternocleidomastoid is innervated by the access ...

. It can, but does not necessarily, have an opening to the skin surface, called a

fistula A fistula (plural: fistulas or fistulae ; from Latin ''fistula'', "tube, pipe") in anatomy is an abnormal connection between two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other hollow or ...

. The cause is usually a

developmental abnormality A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can r ...

arising in the early prenatal period, typically failure of obliteration of the second, third, and fourth

branchial cleft A pharyngeal groove (or branchial groove, or pharyngeal cleft) is made up of ectoderm unlike its counterpart the pharyngeal pouch on the endodermal side. The first pharyngeal groove produces the external auditory meatus (ear canal). The rest (2, ...

, i.e. failure of fusion of the second

branchial arches Branchial arches, or gill arches, are a series of bony "loops" present in fish, which support the gills. As gills are the primitive condition of vertebrates, all vertebrate embryos develop pharyngeal arches, though the eventual fate of these ar ...

and epicardial ridge in lower part of the neck. Branchial cleft cysts account for almost 20% of neck masses in children. Less commonly, the cysts can develop from the first, third, or fourth clefts, and their location and the location of associated fistulas differs accordingly.

Symptoms and signs

Most branchial cleft cysts present in late childhood or early adulthood as a solitary, painless mass, which went previously unnoticed, that has now become infected (typically after an

upper respiratory tract infection An upper respiratory tract infection (URTI) is an illness caused by an acute infection, which involves the upper respiratory tract, including the nose, sinuses, pharynx, larynx or trachea. This commonly includes nasal obstruction, sore throat, ...

). Fistulas, if present, are

asymptomatic In medicine, any disease is classified asymptomatic if a patient tests as carrier for a disease or infection but experiences no symptoms. Whenever a medical condition fails to show noticeable symptoms after a diagnosis it might be considered as ...

until infection arises.

Pathophysiology

Branchial cleft cysts are remnants of

embryonic development An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male spe ...

and result from a failure of obliteration of one of the branchial clefts, which are

homologous Homology may refer to: Sciences Biology *Homology (biology), any characteristic of biological organisms that is derived from a common ancestor *Sequence homology, biological homology between DNA, RNA, or protein sequences * Homologous chrom ...

to the structures in

fish Fish are aquatic, craniate, gill-bearing animals that lack limbs with digits. Included in this definition are the living hagfish, lampreys, and cartilaginous and bony fish as well as various extinct related groups. Approximately 95% ...

that develop into

gills A gill () is a respiratory organ that many aquatic organisms use to extract dissolved oxygen from water and to excrete carbon dioxide. The gills of some species, such as hermit crabs, have adapted to allow respiration on land provided they are ...

Pathology

The cyst wall is composed of squamous epithelium (90%), columnar cells with or without

cilia The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projecti ...

, or a mixture of both, with lymphoid infiltrate, often with prominent

germinal center Germinal centers or germinal centres (GCs) are transiently formed structures within B cell zone (follicles) in secondary lymphoid organs – lymph nodes, ileal Peyer's patches, and the spleen – where mature B cells are activated, prolife ...

s and few subcapsular lymph sinuses. The cyst is typically surrounded by lymphoid tissue that has attenuated or absent overlying epithelium due to inflammatory changes. The cyst may or may not contain granular and keratinaceous cellular debris.

Cholesterol crystal A cholesterol crystal is a solid, crystalline form of cholesterol found in gallstones and atherosclerosis. Gallstones occurring in industrialized societies typically contain more than 70-90% cholesterol by weight, much of which is crystalline. Chole ...

s may be found in the fluid extracted from a branchial cyst.

Diagnosis

The

diagnosis Diagnosis is the identification of the nature and cause of a certain phenomenon. Diagnosis is used in many different disciplines, with variations in the use of logic, analytics, and experience, to determine " cause and effect". In systems engin ...

of branchial cleft cysts is typically done clinically due to their relatively consistent location in the neck, typically anterior to the

sternocleidomastoid muscle The sternocleidomastoid muscle is one of the largest and most superficial cervical muscles. The primary actions of the muscle are rotation of the head to the opposite side and flexion of the neck. The sternocleidomastoid is innervated by the access ...

. For masses presenting in

adult An adult is a human or other animal that has reached full growth. In human context, the term ''adult'' has meanings associated with social and legal concepts. In contrast to a "minor", a legal adult is a person who has attained the age of ...

hood, the presumption should be a

malignancy Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not s ...

until proven otherwise, since carcinomas of the tonsil, tongue base and thyroid may all present as cystic masses of the neck. Unlike a thyroglossal duct cyst, when swallowing, the mass should not move up or down.

Types

Bilateral Branchial Cleft Sinus intraoperative

Four branchial clefts (also called "grooves") form during the development of a human embryo. The first cleft normally develops into the

external auditory canal The ear canal (external acoustic meatus, external auditory meatus, EAM) is a pathway running from the outer ear to the middle ear. The adult human ear canal extends from the pinna to the eardrum and is about in length and in diameter. Struct ...

, but the remaining three arches are obliterated and have no persistent structures in normal development. Persistence or abnormal formation of these four clefts can all result in branchial cleft cysts which may or may not drain via sinus tracts. * First branchial cleft cysts account for 8% of the sinuses and cysts of the neck. The cysts are usually located in the front or behind the ears, lateral to the

facial nerve The facial nerve, also known as the seventh cranial nerve, cranial nerve VII, or simply CN VII, is a cranial nerve that emerges from the pons of the brainstem, controls the muscles of facial expression, and functions in the conveyance of ta ...

, parallel to the external auditory canal. * Second branchial cleft cysts account for 90 to 95% of the neck cysts. It is located medial to the facial nerve, at the anterior neck, anterior to the

, above the hyoid bone. Skin pit can be found in this location. However, if skin pits are found on both sides of the neck, then,

branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndro ...

should be ruled out. Infection of the cysts in this region can compress

trachea The trachea, also known as the windpipe, is a cartilaginous tube that connects the larynx to the bronchi of the lungs, allowing the passage of air, and so is present in almost all air-breathing animals with lungs. The trachea extends from th ...

, causing respiratory problems, or it can compress the

oesophagus The esophagus (American English) or oesophagus (British English; both ), non-technically known also as the food pipe or gullet, is an Organ (anatomy), organ in vertebrates through which food passes, aided by Peristalsis, peristaltic contracti ...

, causing

dysphagia Dysphagia is difficulty in swallowing. Although classified under " symptoms and signs" in ICD-10, in some contexts it is classified as a condition in its own right. It may be a sensation that suggests difficulty in the passage of solids or liqu ...

, and irritating the sternocleidomastoid muscle, causing

torticollis Torticollis, also known as wry neck, is a dystonic condition defined by an abnormal, asymmetrical head or neck position, which may be due to a variety of causes. The term ''torticollis'' is derived from the Latin words ''tortus, meaning "twisted ...

. * Third and fourth branchial cleft cysts are rare, usually consisting of 2% of all branchial arch abnormalities, located below the second branchial arch. They usually have sinus tracts that start from the anterior neck at the

thyroid gland The thyroid, or thyroid gland, is an endocrine gland in vertebrates. In humans it is in the neck and consists of two connected lobes. The lower two thirds of the lobes are connected by a thin band of tissue called the thyroid isthmus. The thyr ...

until pyriform sinus posteriorly. If infected, it can cause

acute infectious thyroiditis Acute infectious thyroiditis (AIT) also known as suppurative thyroiditis, microbial inflammatory thyroiditis, pyrogenic thyroiditis and bacterial thyroiditis.Melmed, Shlomo, Kenneth S. Polonsky, and P. R. Larsenthyroiditis vs subacute thyroiditis ...

in children and if enlarge rapidly, can cause tracheal compression in children.

Treatment

Conservative (i.e. no treatment), or

surgical excision Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pat ...

. With surgical excision, recurrence is common, usually due to incomplete excision. Often, the tracts of the cyst will pass near important structures, such as the

internal jugular vein The internal jugular vein is a paired jugular vein that collects blood from the brain and the superficial parts of the face and neck. This vein runs in the carotid sheath with the common carotid artery and vagus nerve. It begins in the post ...

carotid artery Carotid artery may refer to: * Common carotid artery, often "carotids" or "carotid", an artery on each side of the neck which divides into the external carotid artery and internal carotid artery * External carotid artery The external carotid arte ...

, or

, making complete excision impractical due to the high risk of complications.

References

External links

Pictures and Imaging of Branchial Cleft Cysts
{{Congenital malformations and deformations of face and neck Human head and neck Cutaneous congenital anomalies Genetic disorders with OMIM but no gene