Branchial cleft anomalies
Branchial cleft anomalies comprise of a spectrum of congenital defects that occur in the head and neck.
The anomalies result from branchial apparatus (six arches; five clefts), which are the embryologic precursors of the ear and the muscles, blood vessels, bones, cartilage, and mucosal lining of the face, neck, and pharynx 1.
During the 3rd to 5th week of embryonic development, the second arch grows caudally and covers the third, fourth and sixth arches. When it fuses to the skin caudal to these arches, the cervical sinus is formed. Eventually, the edges of cervical sinus fuse and the ectoderm within the tube disappears 9. Persistence of branchial cleft or pouch results in a cervical anomaly located along the anterior border of the sternocleidomastoid muscle from the tragus of the ear to the clavicle 10.
The range of anomalies can include:
- cyst: no internal or external communication
- fistula: communicates both internally and externally
- sinus: incomplete tract
Cysts are the most common, outnumbering fistulas and sinuses ~2:1 6. Among fistulae and sinuses, the order prevalence is thought to be: external draining sinus > complete fistula > internal draining sinus 6; although some anomalies can occur in combination.
The full list of branchial anomalies includes:
- first branchial cleft anomalies (5-8%) 1-8
- second branchial cleft anomalies (commonest by far: 90-95%) 8
- third branchial cleft anomalies (rare)
- fourth branchial cleft anomalies (rare)
- the fifth cleft does not give rise to the cervical sinus of His which is part of the reason that there are no fifth branchial cleft anomalies
The 3rd and 4th branchial arches tend to be very close and therefore the distinction between these two cleft anomalies can be difficult on imaging 7-8.
- 1. Whetstone J, Branstetter BF, Hirsch BE. Fluoroscopic and CT fistulography of the first branchial cleft. AJNR Am J Neuroradiol. 2006;27 (9): 1817-9. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 2. Al-ghamdi S, Freedman A, Just N et-al. Fourth branchial cleft cyst. J Otolaryngol. 1992;21 (6): 447-9. - Pubmed citation
- 3. Joshi MJ, Provenzano MJ, Smith RJ et-al. The rare third branchial cleft cyst. AJNR Am J Neuroradiol. 2009;30 (9): 1804-6. doi:10.3174/ajnr.A1627 - Pubmed citation
- 4. Thomas B, Shroff M, Forte V et-al. Revisiting imaging features and the embryologic basis of third and fourth branchial anomalies. AJNR Am J Neuroradiol. 2010;31 (4): 755-60. doi:10.3174/ajnr.A1902 - Pubmed citation
- 5. Benson MT, Dalen K, Mancuso AA et-al. Congenital anomalies of the branchial apparatus: embryology and pathologic anatomy. Radiographics. 1992;12 (5): 943-60. Radiographics (abstract) - Pubmed citation
- 6. Gold BM. Second branchial cleft cyst and fistula. AJR Am J Roentgenol. 1980;134 (5): 1067-9. AJR Am J Roentgenol (citation) - Pubmed citation
- 7. Joshi MJ, Provenzano MJ, Smith RJ et-al. The rare third branchial cleft cyst. AJNR Am J Neuroradiol. 2009;30 (9): 1804-6. doi:10.3174/ajnr.A1627 - Pubmed citation
- 8. Koeller KK, Alamo L, Adair CF et-al. Congenital cystic masses of the neck: radiologic-pathologic correlation. Radiographics. 19 (1): 121-46. Radiographics (link) - Pubmed citation
- 9. Sadler TW. Langman's Medical Embryology. LWW. ISBN:1451191642. Read it at Google Books - Find it at Amazon
- 10. Sahu S, Kumar A, Ramakrishnan T. Medical Journal Armed Forces India. 2011;67 (3): . doi:10.1016/S0377-1237(11)60056-7