Branchial Cleft Cysts

July 10,1997
Thanh Nguyen, M.D.
Terminology
The word branchial comes from the Greek, "bragchia," meaning gills. A cyst refers to a mucosa or
epithelium lined structure with no external or visceral openings. A sinus refers to a tract with or
without a cyst that communicates to either the gut or skin. A fistula is a tract connecting the gut to
the skin.
Embryology
Structures between the developing head and the heart (i.e., the face, neck, oropharynx, and the
larynx) develop from the branchial apparatus. There are six branchial arches; the last two are
rudimentary. Each arch has a bar of mesoderm. Caudal to each of the four arches is an internal
pouch lined with entoderm. Externally is branchial cleft, lined with ectoderm. Between each bar, a
branchial plate, composed of entoderm and ectoderm, separates the branchial cleft from the
branchial pouch. In the fish, these branchial plates rupture to form gill slits. In the human, they do
not rupture and are soon invaded by the mesoderm of the neighboring arches.
It is more accurate to omit the word "cleft" when describing branchial anomalies, as this implies
that all of the malformations are derived solely from a branchial cleft with no contribution from the
corresponding arch or pouch.
Branchial clefts 2, 3, and 4 fuse into one structure referred to as the cervical sinus (of His)
created by downward growth of the overlapping second arch's ventral pole. The latter becomes
the platysma muscle. This stage is important in understanding how many of these anomalies
come to lie deep to the platysma. It is generally believed that the branchial anomalies are derived
from remnants of this sinus.
During the growth of a massive first arch, there is a slow movement away from the pericardium.
The interval between is filled by the gradual enlargement of the epicardial ridge structure. The
muscle cells from this ridge form the infrahyoid muscles and the sternomastoid muscle supplied
by the hypoglossal nerve.
The first branchial arch on each side divides into maxillary and mandibular processes. The
mesenchyma of the mandibular arch transforms into Meckel's cartilage. The second branchial
arch gives rise to Reichert's cartilage. One would expect a first cleft defect to lie between the
main derivatives of Meckel's and Reichert's cartilages. Also, there should be close association
with the external auditory canal, since the external canal is a derivative of the first cleft. The
parotid gland is also closely related to any first branchial anomaly. The relationship of a first
branchial anomaly to the parotid gland will be variable because the parotid gland has a somewhat
later embryologic development. Likewise, the relationship of a first branchial anomaly to the facial
nerve will also be variable because the VIIth cranial nerve and its muscles migrate upward at the
6th to the 8th week.
Fistulas of the second arch would have an external opening at the anterior border of the
sternomastoid because this muscle mass arises from the epicardial ridge. This is also the reason
for the fistula's position superficial to the hypoglossal nerve because this nerve supplies muscles
from the epicardial ridge. The tract then passes deep to the platysma since this muscle is derived
from the second branchial bar. The tract ascends along the carotid sheath passing deep to the
external carotid system but superficial to the internal carotid artery. The internal carotid artery

about 90% of the cases. A fistula formed from the third branchial arch has its external opening in the same area as the second branchial fistula. Theoretically. Histology Branchial cysts are usually lined by squamous epithelium -. the area formed from the third branchial cleft. or dental infection.derives from the third branchial bar primitive artery. The tract crosses the hypoglossal nerve but will not ascend above the glossopharyngeal nerve or the stylopharyngeus muscle. The tract passes deep to the platysma. for without a sinus or a fistulous tract there is less chance of infection or early recognition. although it usually lacks the well structured follicular arrangement seen in their cystic counterparts. They are characterized by considerable quantities of subepithelial lymphoid tissue. The tract continues to ascend superficially to the glossopharyngeal nerve and the stylopharyngeus muscle. and many report temporary enlargement with or without tenderness during periods of upper respiratory tract infection. The tract may perforate the tonsillar fossa. The branchial sinuses are more likely to show a pseudostratified columnar lining. sebaceous glands. Larger cysts may displace the sternomastoid muscle posterolaterally and the carotid and internal jugular vein medially. the cyst takes the path of least resistance and extends posterior and medial to the sternomastoid. as have other reported cystic anomalies. Most cysts occur in the region of the lower pole of the parotid gland. the deep cervical fascia prevents its expansion anteriorly between the sternomastoid muscle and the strap muscles of the larynx. generally in a follicular pattern with germinal centers or. Occasionally present are salivary tissue. . Lymphoid tissue is generally present. Eight percent of them are composed of ciliated columnar epithelium. Inflamed cysts may progress to abscess formation with the possibility that rupture or incision and drainage will lead to either permanent sinus formation or to recurrent cyst formation and infection. The tract is superficial to the superior laryngeal nerve that supplies fourth branchial bar derivatives. less frequently. in a diffuse bandlike pattern. Cysts tended to present later than sinuses or fistulae. The internal opening is in the pyriform sinus. This is not surprising. ascending along the common carotid sheath. Clinical Presentation Neel and Pemberton recorded the symptoms and frequency in 319 cases of lateral cervical cysts or fistulas. and course superiorly to the upper esophagus. because of their site of origin. These and other differences lead some authors to doubt a common etiology for branchial sinuses and cysts. With any further increase in the size of the cyst. which are third branchial bar derivatives. and cholesterol clefts with a foreign body reaction. which is the area of the second branchial cleft. Fourth pouch sinuses also arise from the pyriform sinus but in contrast they course inferior to the superior laryngeal nerve. but this time passing behind the internal carotid artery. Males and females are equally affected and there is occasionally a hereditary tendency. also third branchial derivatives. Usually the lumen is filled with viscid yellow fluid characteristically containing large amounts of glittering cholesterol crystals. ear infection. Twenty to 40 percent of the patients relate its discovery to an attack of pharyngitis. As a result. A typical lateral cervical fistula is present at birth. and two percent show both types of epithelium. fistulas or sinus tracts originating in this branchial region would loop around the right subclavian artery on the right or the aortic arch on the left. A cyst may lie anywhere along this tract. Complete fourth branchial apparatus anomalies have never been conclusively demonstrated. A branchial cyst most commonly presents in the second through fourth decades of life.

Finn et al state that neither type of branchial cleft cyst is associated with pretragal cysts or sinuses. Classification of First Branchial Anomalies Arnot proposed the first classification for anomalies of the first branchial cleft. and they tend to be parallel to the EAC. Interestingly. or fistulae without regard to anatomical site or histological subtypes. However. Proctor and Proctor have shown that second branchial cleft cysts occur three times more often than second branchial sinuses or fistulas. Five cases of bilateral branchial cysts have been reported. sinuses. Type II variety are more numerous. The sinuses usually present with recurrent episodes of neck abscess or acute suppurative thyroiditis. Type I anomalies are believed to be solely of ectodermal origin and duplications of the membranous EAC. One of these cases was reported by Dr. 1990). a perithyroid abscess or a retropharyngeal abscess. the most widely accepted classification theory is that of Work. A fistula or sinus tract may course to end deep in the EAC or middle ear. Ninety-five percent of branchial anomalies are second branchial anomalies. 1990). sinuses. these may be a familial connection. Type II first branchial anomalies are also considered to be duplications of the EAC. He designated as a Type 1 defect any cyst or sinus in the parotid gland that is lined by squamous epithelium and which presents in early or middle adult life. Arnot. Both types of first branchial cysts. whereas Work classified defects according to histology. Belensky and Medina classifed first cleft anomalies. and typically present either in the neonatal period or in older children (3 to 11 years). These lesions are usually located in the preauricular area. they are not related to the external auditory canal. These arise from failure of fusion of the auricular hillocks around the dorsum of the first branchial arch. These abnormalities occur on the left hand side in 93% of the 28 reported cases (Godin et al. Differential Diagnosis . has never been demonstrated. Type 2 defects develop during childhood in the anterior triangle of the neck. Olsen et al maintain that such a classification does not aid in the diagnosis or surgical management of such defects. and fistulas are intimately involved with the parotid gland and facial nerve. Shirley in the Baylor ENT residency program.Olsen et al showed that first cleft cysts occurred twice as often as sinuses or fistula. Arnot based his classification primarily on anatomical location. Work. A fistula or sinus tract may course toward the EAC and open more laterally near the bone and cartilage junction. many cases do not fit into either Arnot's or Work's classifications. although they may arborize. As Belensky and Medina illustrated. and correlated the anatomical site and the histopathology of the defect. because of the lack of correlation between site of occurrence and histopathology of the anomaly. Type I lesions are extremely rare. They are always lateral to the facial nerve and. These authors arrived at similar classifications. They separate first cleft anomalies into cysts. but these lesions are derived from both ectoderm and mesoderm. A complete fistula. although theoretically feasible. with a communicating tract to the external auditory canal. This leftsideness is probably due to the asymmetry of transformation of the fourth branchial arch to form the aorta and innominate arteries. all of which have been sinuses (Takimoto et al. Third and fourth branchial arch anomalies are rare (Doi et al. 1988) and only 31 reports of such branchial arch anomalies are recorded. Kaneko et al and Richardson et al report approximately 50 cases of first branchial cleft cysts. These anomalies are usually located posterior and/or inferior to the angle of the mandible. Upon reviewing the world literature. implying that embryological differences give rise to the two types.

surgery can be done as soon as possible. They found positive results in masses present for the longest period of time. Presence of the carcinoma within the lining of identifiable epithelial cyst. lymphomas. In 1950. especially in third and fourth branchial anomalies. If branchial fistulas. cervical thymic cysts. Identification of transition from the normal squamous epithelium of the cyst to carcinoma. squamous cell carcinoma. For branchial cysts. Treatment Surgery is indicated for branchial anomalies because there is a lack of spontaneous regression. metastatic malignant neoplasms (SCCA from a primary site in the aerodigestive tract). cystic hygroma (lymphangioma).Differential diagnosis includes: branchiogenic carcinoma. 2. Ultrasonography cannot differentiate between a branchial cyst and cystic metastases. They reviewed 250 cases of carcinoma of branchial cysts reported in the literature. sinuses. ectopic thyroid. Barium swallow should be performed after the resolution of acute inflammation in order to decrease the chance of false-negative results. thyroglossal duct cyst. endoscopy and ipsilateral tonsillectomy and blind biopsies of Waldeyer's ring are recommended in the patients older than 40 years. 5. diagnostic studies have been less helpful. or cysts are noted in the neonatal period. Location of the tumor in the anatomic region of the branchial cleft cyst or sinus. 1981). Most surgeons believe that the presence of a branchial cyst or sinus is the only necessary indication for surgery. sinogram or barium contrast study can delineate the course of the anomaly.e. 3. Endoscopy and biopsy of suspicious areas only can produce a false sense of security. The wall of tuberculous fisulas is very irregular compared with the smooth wall of a branchial fistula.. surgery can be postponed until three to six months of age. Branchio-Oto-Renal Syndrome is an autosomal. Fine needle aspiration is of limited value.only three of these FNA's were positive. Strict criteria for the establishment of a diagnosis of branchial cleft carcinoma have been forwarded: 1. The concept of "branchiogenic carcinoma" was first introduced by Volkman in 1882 to explain 3 cases of deeply infiltrating cervical carcinoma without identifiable primary malignancies. a high rate of recurrent infection. it would be about when to operate. thyroid cysts. Martin et al published a landmark paper on branchiogenic carcinoma. Because the vast majority of cystic metastases are attributable to a malignancy of Waldeyer's ring (Batsakis. The branchial manifestations are usually inconsequential. hemangiomas. however. tuberculous adenitis. dominant disorder. Absence of any identifiable primary malignant tumor after exhaustive evaluation of the patient. 4. the hearing impairment and renal malformations can be significant. . Granstrom and Edstrom (1989) studied 42 patients with lateral cervical cystic masses. nine of which proved to be malignant . and identified only three cases among them that could presumably be considered legitimate. parotid cystic tumors. If any debate exists. Histologic appearance of the tumor consistent with its origin from branchial vestiges. There is little disagreement that the treatment of choice is complete surgical excision of the cyst or sinus tract. and rare malignant degeneration. If the abnormality is noted after six months of age. which set the tone of most subsequent reports in the literature. the possibility of other diagnoses. Diagnostic Studies In cases of sinus or fistula. lipoma. CT is likewise unhelpful. i. This allows the child to grow and hopefully precedes a first upper respiratory infection which may lead to infection. carotid body tumors.

For resection of third or fourth branchial remnants. methylene-blue dye or quick-hardening polymers. Infection contributes to morbidity both in its own right and more importantly because it doubles the recurrence rate after surgery by adding to the difficulty of the excision. but this has not always been necessary. In the Mayo Clinic series of 283 branchial remnant resections. and the position of the cyst in this case represents the medial limit of the second branchial cleft. are not only noncurative but also markedly increase the recurrence rate after surgery. fistulas can be excised through the oral route. it has been a general experience that such defects heal without problems and without subsequent stenosis after packing the meatus for 3-4 weeks. and repeated incision and drainage or aspiration. consideration must be made for performing a hemithyroidectomy if there is a history of suppurative thyroiditis. The fistula was mobilized from below as far possible towards the pharynx and then excised. Visualization of the tract at operation may be aided by injecting into the fistula paraffin. and Dilkes et al. but the dissection rarely needs to extend more than 1-2 cm peripheral to the division of the facial nerve. Identification and dissection of the facial nerve is a necessary step. Because the dissection extends into the tracheoesophageal groove. avulsion by gentle steady traction on the oral end. History . fixation of the cervical end to the stripper. Because the ear canal cartilaginous duplication anomaly frequently communicates with the cartilaginous meatus. This is because lymph nodes are not known to exist in the parapharyngeal tissue around the tonsil. as well as the parathyroid glands. A probe was passed through the residual portion of the fistula into the mouth. Functional neck dissection is suitable for treatment of recurrent cervical branchial defects. Additionally. The operation is only possible when the cyst lies in a medial position. First branchial remnants are often closely associated with the facial nerve and external auditory canal. The standard surgery for second arch anomaly is usually by a stepladder incision originally described by Bailey in 1933. Stripping of the fistula. are at risk of injury during exploration. injection of sclerosing agents. The presence of a branchial cyst in such a medial position supports the congenital theory for its etiology. Recurrences are about twice as likely in surgery of branchial sinuses as in surgery of branchial cysts. Cox inserted the stripper along the outside of the tract then avulsed it from below. Some authors recommend superficial parotidectomy. the pyriform sinus opening can be approached by cutting a window in the lateral ala of the thyroid cartilage. Invagination of the fistula was described by Von Hacker in 1897. The dissection may be facilitated by prior catheterization of the fistula. requires a correct diagnosis and a complete fistula with both internal and external openings (a complete fistula with external and internal openings is rare). In 1963. The fistula was then inverted into the mouth and ligated. Alternatively. the recurrent and superior laryngeal nerves. including radiation therapy.The reason for this early excision is the high incidence of secondary infections of these lesions probably at least 25% before definitive surgery. Other primary treatments. However. 1990. and closure of the cervical wound. 1989. compared with a recurrence of 3% for cases with no history of surgery or infection. first described by Heanley in 1976. radical operation often results in a defect in the cartilaginous meatus. close to the pharyngeal wall. freeing of the cervical end. The procedure is identical to that used at parotidectomy. The per-oral excision of a branchial cyst has been described by Takimoto et al. the recurrence rate was 21% when there was a history of surgery and 14% when there was a history of infection. It involves insertion of the stripper from the cervical end into the pharynx.

Instead he emphasized the close relationship between these cysts and lymphoid tissue. which led to doubts about the branchiogenic origin of many lateral cervical cysts. hypoplasia of the mandible with Class III occlusion. A tracheotomy is present in the neck. Cysts presenting in the lateral aspect of the neck were first described by Hunczovsky (1785). squamous epithelium derived from the pharynx spreads via the lymphatic system to regional lymph nodes. Luck (1861) noted that the external appearance of a lateral cervical cyst showed a great similarity to a hypertrophied lymphatic gland. An alternative theory suggests that lateral cervical cysts represent cystic lymph nodes. He suggested that incomplete obliteration of the thymopharyngeal duct resulted in a lateral cervical cyst. He showed that pharyngeal cleft tissue was not represented in any adult tissue inferior to the hyoid bone. Subsequent growth of this epithelium and cystic degeneration of the node forms the cyst (Wilde et al. Ascherson equated the development of lateral cervical cysts with that of branchial fistulae due to their location. The family history was negative for relatives with craniofacial or auricular malformations. Ascherson (1832) described 11 cases of branchial fistulae. Upper airway obstruction secondary to severe mandibular hypoplasia necessitated elective tracheotomy in the first week of life. Another explanation is that. Shortly after. absent zygomatic arches. Wenglowski went on to describe the development of the thymus from the third pharyngeal pouch via the thymopharyngeal duct. as a result of tonsillitis and pharyngitis. The mastoids. former 36-week premature infant that at birth was noted to have midfacial and mandibular hypoplasia consistent with the diagnosis of Treacher-Collins Syndrome. are well developed bilaterally. immunohistochemistry is being used to study. and bilateral Grade III microtia with aural atresia. there are many theories for the etiology of lateral cervical cysts. Thus any cyst lying below this level could not be derived from a pharyngeal cleft. Everything appeared to fit nicely into this neat categorization until 1912 when Wenglowski published the results of his dissection of cadavers and human embryos. 1988). The remainder of the physical exam was unremarkable. Luschka (1848) described a lymph node between the external and internal carotid arteries. However. pharyngeal pouch and parotid gland. he underwent audiometric evaluation consisting of air and bone . the nature of the epithelial cells and their relationship to other types of epithelium elsewhere in the body. at the molecular level. At the beginning of the 19th century. His past medical history was notable for uncomplicated neonatal jaundice. 1987). On exam.Although almost all surgeons agree that congenital lateral cervical sinuses and fistulas result from anomalies of the branchial apparatus. They can be grouped into two categories: the congenital and the cervical lymph nodes cystic transformation theories. A gastrostomy tube was placed secondary to poor oral intake. however. At present. it has been pointed out that cystic transformation of lymph nodes is not known to occur in other anatomical sites. The most widely held belief is that cervical cysts are derived from the branchial apparatus (Hosemann and Wigand. the patient is noted to have malar hypoplasia. This hypothesis has become known as the "Inclusion Theory. Medical work-up for congenital cardiac and renal anomalies was negative. to clarify the origin of these cysts. King (1949) studied 76 cervical cysts and concluded that they had no direct relationship with any structure in the embryo. Rathke (1828) described the development of the pharyngeal arches in the human fetus. At two months of age. Bhaskar and Bernier (1959) reviewed the histology of 468 cysts: 452 had a wall composed of lymphoid tissue. Case Presentation A 2-year and 9-months-old male. They suggest that the cystic alteration of cervical lymph nodes is stimulated by trapped epithelium." They originally suggested three possible sources for these epithelial inclusions: brachial cleft.

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