Disclaimer: The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature.Branchial Cleft Anomalies Branchial cleft anomaly is also known as lateral cervical anomaly. Rathke, in 1928, first described the embryologic development of the pharyngeal arches in the human fetus. Four years later, in 1832, Asherson presented the first branchial theory followed by Hist in 1886 who proposed the precervical sinus theory where Glowsky described the formation of cysts based on the thymopharyngeal duct theory and King in 1949 described the lymph node theory. And then more recently the inclusion theory was proposed by Wilde. Asherson first described 11 cases of branchial fistulas in his 1832 book whose cover page is shown here. In it he suggests the cervical cysts were the result of imperfect obliteration of the pharyngeal pouches on the inner surface of the embryo. Hist, in 1886 proposed a similar developmental theory however he described the formation as incomplete obliteration of the outer cervical sinus, which was later, named after him as opposed to the cluster pouches. Here we see the cervical sinus located laterally. Where Glowsky in 1912 dissected 78 embryos, 144 infants and 59 human cadavers and showed that the pharyngeal cleft tissue was not present in any of the adult tissue inferior to the hyoid bone. He felt cystic lesions below this level could not be explained from the pharyngeal cleft and he went on to describe the development of the thymus from the third pharyngeal pouch via what he called the thymopharyngeal cleft. He suggested that incomplete obliteration of the thymopharyngeal duct, which he illustrated in this drawing from 1912 right here, resulted in the lateral cervical cyst. King in 1949, based on work by Professor Luck in 1861 studied 76 cervical cysts based on histology and embryology. He concluded that the cervical cysts had no direct relationship with any of the structures of the embryo instead supporting the idea that these were examples of cystic degeneration of lymph nodes. And then Wilde in 1987 described the final theory where as a result of tonsillitis or pharyngitis, squamous epithelium derived from the pharynx spread to the lymphatic system to regional lymph nodes where it then undergoes cystic degeneration. Controversy still remains surrounding the actual evolution of lateral cervical cysts however, their origin as the remnants of cervical sinus is the most widely accepted today. To really fully understand the branchial cleft anomalies you must first understand the embryology of the neck. The branchial apparatus develops during the third and fourth embryonic week of life and is present until the end of the sixth week. The branchial arches consist of five parallel bars of mesoderm, each with their own cranial nerve, blood supply and cartilaginous elements. Here one sees an electron microscope image of the human embryo at day 31. Note the first arch is divided into the maxillary and mandibular swelling and you have the second, third, fourth and sixth arches. A cross section through this plane here is schematically represented below and illustrates that each arch has its associated cartilage artery and nerve. These unique structures account for formation of the pharynx, the neck, jaws and the middle and external ear. The branchial apparatus is marked externally by four branchial clefts lined with ectoderm in the region of the pharynx as seen here. Internally, the embryonic pharynx is invaginated into five lateral pharyngeal pouches lined with endoderm of which the first four correspond to the external branchial clefts. The fifth arch and pouch are rudimentary. Between each cleft pouch set is a mesodermal branchial plate here, which later becomes invaded by mesoderm from the arches. In fish, these branchial plates actually rupture to form gill slits. Each branchial arch is anterior to its corresponding cleft and pouch. As mentioned before each arch has associated with it a specific cartilage artery and nerve. The first cartilage of the first cleft is divided into the maxillary, which is also caused the poudo tiege quadre and the mandibular cartilage, which is known as Meckel’s cartilage. The maxillary cartilage gives rise to the islet sphenoid and the incus and the Meckel’s cartilage forms the malleus in the middle ear and is enclosed by the mandibular bone. The second arch cartilage is called Richart cartilage and in humans develops into the stapes, the styloid process, the stylohyoid ligament and the lesser horn of the hyoid. The third arch derivatives form the body and greater horn of the hyoid and the fourth and sixth together give the cartilaginous structures of the larynx. The first pharyngeal arch nerve leads in humans to form the maxillary and mandibular V2, V3 divisions of the fifth cranial nerve. The second arch develops into the facial nerve and all its associated branches. The third arch develops into the glossopharyngeal nerve and the fourth arch nerve develops into the 10 th cranial nerve, both the superior, recurrent and the vagus portions. The arterial supply of the first arch regresses completely except for a small remnant giving rise to a portion of the maxillary artery. The artery of the second arch regresses completely as well except for the small stapedial artery. The third arch artery becomes the common carotid and the internal carotid arteries and the fourth arch arteries develop asymmetrically. On the right they form the branchial cephalic artery and on the left they form a portion of the aortic arch. The mesoderm of the pharyngeal arch gives rise to functionally related muscle groups. The first arch gives the muscles of mastication as well as the mylohyoid, the anterior belly of the digastric, the tensor timpani and the tensor palati. The second arch gives the muscles of facial expression, the posterior belly of the digastric, the stylohyoid and the stapedius. The third arch only gives the stylopharyngeous and the fourth arch gives the constrictors, the cricothyroid and the levator pallati. As seen here the first cleft becomes the external auditory canal. The plate becomes the TM and the pouch becomes the tympanic cavity and Eustachian tube. At about embryonic day 32 the ventral pole of the second branchial arch grows downward overlapping the second, third and fourth branchial clefts, seen here, forming the lateral cervical sinus of Hiss which in normal development is only a transient structure which disappears rapidly and completely. If this embryonic ectodermally lined sinus persists however, it is believed that it can later give rise to the branchial cleft anomalies that we will be talking about. All the pharyngeal pouches give rise to important structures. The first pouch persists in adults as the tympanic cavity as we just said. The second pouch gives rise to the palatine tonsil, the third pouch gives rise to the thymus and the inferior parathyroid gland which migrate inferiorly; the thymus ultimately to rest in the thorax and the inferior parathyroid to rest in the inferior pole of the thyroid gland. The superior parathyroid is derived from the fourth pouch but in a human actually sits superior to the third due to this inferior migration of the third pouch derivatives. And finally, the fifth pouch gives off the ultima branchial body, which migrates to the thyroid to differentiate into the Calcitonin producing C cells. If the lateral cervical sinus is not obliterated soon after formation one of three lesions can form; a cyst, a sinus or a fistula. As seen here, a cyst will have no communication to the skin or pharynx. A sinus will either open externally to the skin or internally to the pharynx but not to both and a fistula will have a communication from the pharyngeal surface all the way to the skin. Lateral cervical sinus cysts can be just medial and anterior to the sternocleidomastoid. These are general, usual locations. Differential diagnosis of branchial cleft anomalies will also include a branchiogenic carcinoma, tuberculis adenitis, lipoma, metastatic malignancies, cystic hygroma, carotid body tumors, lymphoma, hemangioma, thyroid cysts, ectopic thyroid, thyroglossal duct cyst or parotid cystic tumors. Branchial cleft cysts are usually smooth, round, nontender masses located along the anterior border of the sternocleidomastoid muscle anywhere from the tragus to the clavicle. They may be noticed at any age but typically present in the second to fourth decade of life affecting males and females equally. They may enlarge after an upper respiratory infection or for unknown reasons and can be secondarily infected to form abscesses with permanent sinuses. The branchial cleft sinuses and fistula are almost always seen shortly after birth and may occur bilaterally in up to one-third of cases. The opening is usually in the lower one-third of the neck as a small skin pit and often secretes mucus. The branchial cleft anomalies are divided into four different types, the first, second, third and fourth. First classified by Arnot in 1971 and later restructured by Wirk in 1972, the first branchial cleft cysts develop as a result of incomplete fusion of the cleft between the first and second branchial arches leading to distinct anomalies, Type I and Type II anomalies. Type I anomalies are purely ectodermal. They are very rare, they are lined with squamous epithelium and appear posterior, inferior or medial to the concha and pinna. If present, the sinus tract parallels the external auditory canal and the cyst is usually superior to the main trunk of the seventh cranial nerve. It ends in a cul de sac on or near the bony plate at the level of the mesotympanum. The Type II first branchial cleft anomalies are much more numerous and represent a duplication of both the membranous and cartilaginous portions of the EAC. They contain skin as well as adnexal structures and cartilage and course over the angle of the mandible, through the parotid and end at the EAC. The course relative to the facial nerve is quite variable. Most frequently they are associated with a fistula in the concha in the EAC or in the neck. By far, the most common of the branchial anomalies are those of the second branchial cleft, which account for up to 95% of cases. They present as swellings in the mid to lower neck, anterior to the sternocleidomastoid muscle and below the angle of the mandible. If a sinus tract is present it opens on the skin anterior to the SCM as seen here where there is also noted to be some discharge and courses deep to the platysma along the carotid sheath passing between the internal and external carotid arteries and may end in the tonsillar fossa usually posteriorly. Here’s an example of a 22-year-old male who had a chronically draining opening along the anterior border of his SCM that when it was injected with contrast proved actually to be continuous all the way to the tonsillar fossa consistent with a second branchial cleft cyst. Proctor in 1955 divided the second cleft anomalies into four types: Type I were located superficially on the anterior border of the sternocleidomastoid beneath the cervical fascia. Type II, the most common, lie deep to the investing fascia in contact with the internal jugular vein but still attach to the SCM. Type III lie between the internal and external carotid arteries and may extend all the way to the pharyngeal wall. And finally, Type IV are found adjacent to the pharyngeal wall and medial to the great vessels. However, the vast majority of second branchial cleft cysts will be on top of or lateral to the great vessels. Radiographically, second branchial cleft cysts can be seen here again anterior, here’s a cyst anterior to the SCM, lateral to the great vessels and posterior to the submandibular gland and same location here. On this T1 and T2 image MRI it again shows this similar relationship. The mass is noted here, there’s the sternocleidomastoid muscle here, the vasculature here and the submandibular gland right there. The Type IV second branchial cleft cyst, which rests adjacent to the pharyngeal wall as seen in these two cases, may present as parapharyngeal masses. Here you see a large mass and here you see it again. They more typically present though as dysphasia or a sore throat but as evidenced by this radiograph here, they can certainly present as an airway compromise. Third branchial cleft cysts are very rare. The external opening of these lesions would be located basically in the same place as the second cleft anomalies however, as they extend along the carotid sheath it courses behind the internal carotid and glossopharyngeal nerve and passes over the hypoglossal nerve to follow the superior laryngeal nerve to the region of the piriform sinus where it opens. Special care must be taken as these tracts may be intimately associated with the vagus nerve as they pass behind the carotid. Here is an example of a third branchial cleft fistula, which opens into the piriform sinus. These lesions seem to occur with a predominance on the left side. And finally, fourth branchial cleft anomalies have never been conclusively demonstrated to exist however, 31 cases of the fourth branchial cleft anomalies have been reported in the literature. They generally present in childhood as recurrent deep neck infections although they also have reported to be presented as acute thyroiditis in some children. Theoretically, the tract would begin at the apex of the piriform sinus and proceed inferior to the superior laryngeal nerve, exit the larynx and travel lateral to the trachea down into the chest where on the left it would loop around the arch of the aorta and on the right it would loop around the subclavian artery. It would then ascend posteriorly along the carotid sheath to loop over the hypoglossal nerve before redescending to exit the skin at the lower anterior border of the SCN. Again, no complete tract has ever been demonstrated. Branchial cleft cysts histologically are lined with stratified squamous epithelium in 90% of the cases. In the other 10% they usually have ciliated columnar epithelium, which is seen lining this cavity right here. Branchial cleft cysts have a sub-epithelial lymphoid tissue, which often forms germinal centers. Here you see the stratified squamous epithelium and a nice germinal center. This black and white slide also displays the prominent germinal center, which may be seen in this lymphoid reaction. The first branchial cleft cyst will often differ histologically as well. In Type I which are ectodermal only, a simple stratified squamous epithelium is present as seen here. However, in the Type II which would derive from ectoderm and mesoderm, there is stratified squamous epithelium as well as adnexal structures such as sebaceous glands and hair follicles. Seen here are the sebaceous glands and hair follicles associated with the stratified squamous epithelium. Branchial cysts and sinuses can differ histologically as well. Cysts are classically stratified squamous epithelium as we said. Sinuses may often be pseudo-stratified columnar lined. Grossly, the cysts have a lumen that’s filled with keratinous debris and a viscous yellow fluid. This fluid contains a large amount of glittering cholesterol crystals. Here one sees the thickened wall with keratinous debris. Grossly, sinus tracts appear as seen here with an elliptical portion of the skin removed in continuity with the tract. Evaluation of such lesions should always begin with the appropriate history and physical with related diagnostic studies such as CT, ultrasound, MRI or F&A to exclude lesion such as neoplasm or infectious diseases such as tuberculosis. Complete surgical excision is the only satisfactory method of treatment for these lesions as they have a high tendency to recur and become infected. Excision is usually not carried out until at least three to six months of age but should be carried out as soon as possible because of the high incidence of secondary infection. If infected at presentation the first treatment is with antibiotics and later surgical excision. However, often if severely infected enough, incision and drainage must first be done before a surgical excision can be performed. Other treatment modalities such as radiation therapy, sclerosing agents or repeated incision and drainage are not curative and have a very high recurrence rate. The principles are the same basically for all types of lesions but the approach for surgical excision among the different branchial cleft cysts differ. When no sinus opening is present a single transverse skin crease incision over the cyst is often adequate. The dissection extends down through the platysma, the sternocleidomastoid is retracted laterally and the mass is sharply dissected off the vital structures such as the internal jugular or the carotid. Although an external tract may not be present, internal tracts must be identified and followed and fully excised. Here one sees the mass relative to the SCM and the angle of the mandible and then the gross specimen after surgical excision. Second or third branchial anomalies with a sinus tract are excised using the stepladder approach. An elliptical transverse incision is made around the external opening of the skin. The dissection is then carried sharply along the tract, cephalic towards the cyst. Identification of the tract can be facilitated with either injection of Methylene blue or with a blunt metal probe. A second parallel stepladder incision is then made over the cyst and the tract brought through the incision and the dissection continued until complete excision is achieved. Great care must be taken to avoid injuring structures such as the vagus, hypoglossal, spinal accessory nerves as well as jugular and carotid vasculature. First branchial cleft anomalies at the angle or in or around the parotid are removed with superficial parotid dissection identifying the tract and following its course. The facial nerve must be identified and preserved as the tract passes through the parotid where the tract may lie medial, lateral or between the branches of the facial nerve. The tract should be traced to the junction with the external auditory canal where elliptical incision at that orifice may be necessary. Complications include infection or damage to nearby structures such as any of the Cranial nerves VII through XII or large vascular structures such as the carotid or jugular. The recurrence rates vary from 3% in cases without any previous infection to or surgery to as high as 20% in cases where there is previous surgery. Recurrence rates are twice as likely in branchial sinuses as compared to cysts. Branchial cleft anomalies are relatively common problems seen in otolaryngology and must be recognized early. A thorough understanding of both the embryology and the anatomy is necessary. Surgical excision is required because the rate of recurrent infection is so high. Case Presentation: J.E. is a 44-year-old male with no significant past medical history who was referred to The Methodist Otolaryngology complaining of a one-month history of gradually enlarging neck mass. He had been seen by an outside physician and treated unsuccessfully with antibiotics. He reported the mass to be located below his jaw, and denied any pain at the site. He reported a history of URI about 6-weeks prior, but it had resolved uneventfully. He denied erythema or edema, no induration or pus, no dysphagia, shortness or breath or change in voice, and no recent weight loss. He had no past medical or surgical history, was on no medications. He denied tobacco use, and was only a social drinker. His physical exam was remarkable only for a 3cm level II left neck mass, which was soft, mobile, non-tender with no associated erythema or edema and no lymphadenopathy. There were no draining sinus tracts or skin pits. His ear exam was unremarkable, as was the remainder of the physical exam. He then underwent CT of the neck, which showed a unilocular cystic mass of the left suprahyoid neck anterior to the sternocleidomastoid muscle, inferior and medial to the angle of the mandible. It displaced the submandibular gland anteriorly and inferior, and only a few 4mm lymph nodes were noted. He then underwent FNA, which showed mature squamous cells and acute inflammation but no evidence of malignancy, consistent with a branchial cleft cyst. He underwent surgical excision where the mass was noted to be in conjunction with the SCM, overlying the internal jugular vein and carotid bulb consistent with a Type II second branchial cleft cyst. There was no evidence of superficial or deep sinus tracts. The patient tolerated the procedure well, and was sent home on post op day 1. Final pathology revealed a cystic wall lined with stratified squamous epithelium surrounded by chronic inflammatory cells with reactive lymphoid hyperplasia consistent with a branchial cleft cyst. His remaining post-operative course was unremarkable and he recovered well. Bibliography: Arnot RS. Defects of the first branchial cleft. South Afr J Surg 1971;9:93-98. Aronsohn RS, Batsakis JG, Rice DH, Work WP. Anomalies of the first branchial cleft. Arch Otolaryngol 1976;102:737-740. Belenky WM, Medina JE. First branchial cleft anomalies. Laryngoscope 1980:90:28-39. Bilgen C, Ogut F, Celtiklioglu F. A new case of a branchial cyst of the parapharyngeal space. Ear Nose Throat J 2001;80:387-389. Chandler JR, Mitchell B. Branchial cleft cysts, sinuses, and fistulas. Otolaryngol Clin North Am 1982;14:175-186. Clevens RA, Weimert TA. 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First branchial cleft anomalies: a study of 39 cases and a review of the literature. Arch Otolaryngol Head Neck Surg 1998;124:291-295. Verma A, Sohail MA, Al-Khabori M, Moosa M. Nasopharyngeal cyst of branchiogenic origin: a report of a case and review of the literature. Ear Nose Throat J 2000;79:722-731. Work WP. Cysts and congenital lesions of the parotid gland. Otolaryngol Clin North Am 1997;10:339-343. Work WP. New concepts of first branchial cleft defects. Laryngoscope 1972;82:1581-1593. Grand Rounds Archive | Department Home page BCM Public | BCM Intranet | Privacy Notices | Contact BCM | BCM Site Map | ©2001-2005 Baylor College of Medicine
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