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Branchial Cleft Anomalies Dr. Benjamin F. Erhardt, MD PGY2 Dr. Eliav Gov-Ari, MD University of Missouri Department of Otolaryngology Grand Rounds August 21st, 2013 Objectives Embryology of the Branchial Apparatus 1st – 4th Arch Anomalies 1st – 4th Pouch Anomalies 1st – 4th Cleft Anomalies (Cysts, sinuses, and fistulae) Workup Surgical management Syndromic Associations Embryology Pouch – endoderm Arch – mesoderm Cleft – ectoderm 1st Arch (Mandibular) Nerve? CN V Muscles? Muscles of mastication, mylohyoid, ant belly of digastric, tensor tympani, tensor veli palatini Skeletal? Malleus head, incus short process and body, portion of mandible, maxilla, zygoma, squamous portion of t-bone Artery? Maxillary branch of external carotid Pouch? Middle ear cavity, parotid, submandibular gland 2nd Arch (hyoid) Nerve? CN VII Muscle? Muscles of facial expression, post belly of digastric, stylohyoid, stapedius Skeletal? Malleus manubrium, long process of incus, head and crura of stapes, styloid process, stylohyoid ligament, lesser cornu and superior portion of hyoid bone *Stapes footplate is from otic capsule* Artery? Vestigial (may persist as stapedial artery) Pouch? Tonsillar fossa, palatine tonsils External Ear Development 6 Hillocks of His 1,2,3 from 1st arch 4,5,6 from 2nd arch Malformations and fusion failures results in tags, pits, and sinuses These are distinct entities from 1st and 2nd branchial cysts 3rd Arch Nerve? CN IX Muscle? stylopharyngeus Skeletal? Greater cornu and inferior portion of hyoid bone Artery? Internal and common carotid arteries Pouch? Thymus and inferior parathyroids 4th Arch Nerve? CN X (Superior laryngeal nerve) Muscle? Pharyngeal constrictors, cricothyroid muscle Skeletal? Thyroid cartilage, cuneiform cartilage Artery? Right: subclavian Left: arch of aorta Pouch? Ultimobranchial body (C-cells), superior parathyroids 5th Arch Nerve? CN X (Recurrent laryngeal nerve) Muscle? Intrinsic laryngeal muscles Skeletal? Cricoid, arytenoids, corniculate cartilage, trachea Artery? Right: pulmonary Left: ductus arteriosus Pouch? There is no 5th pouch Arch nerve skeletal muscle structure artery Malleus head, mastication incus short muscle, process and body, mylohyoid, portion of Maxillary 1st (mandibular) trigeminal (V) anterior digastric, mandible tensor tympani, tensor veli palati facial expression muscles, stapes, styloid, stapedius, lesser cornu 2nd (hyoid) facial (VII) stylohyoid, hyoid, upper Stapedial posterior body hyoid digastric glossopharyngeal greater cornu common carotid, Third (IX) Stylopharyngeus hyoid, lower internal carotid body hyoid pharyngeal superior constricters, thyroid cartilage, subclavian (R), Fourth laryngeal (X) cricothyroid cuneiform aorta (L) fifth/sixth recurrent laryngeal (X) intrinsic laryngeal muscles cricoid, arytenoids, corniculate, tracea pulmonary artery (R), ductus (L) pouch middle ear cavity, salivary glands tonsillar foss/palatine tonsils thymus, inferior parathyroid ultimobranchial body (C-cells), superior parathyroid Branchial Anomalies Arch – mesoderm derivatives Pouch – endoderm derivatives Cleft – ectoderm derivatives 1st Arch Anomalies Malformations of: Eyes Ears Palate Mandible “First Arch Syndromes”: Treacher Collins Pierre Robin 2nd Arch Anomalies Ear – malformation, microtia Ossicles – malformation of the malleus, incus, or stapes Muscular asymmetry of the face Persistent stapedial artery Hyoid malformation (body and lesser horn) 3rd Arch Anomalies Hyoid malformations (greater horn) Carotid aneurysms 4th/5th Arch Anomalies Laryngeal stenosis Laryngoptosis Chondromalacia Double aortic arch Pulmonary artery sling 1st Pouch Anomalies Eustacian Tubes – atresia, diverticula Absent tympanic cavity, mastoid antrum/cells TM – double TM, congenital perforation Tongue – bifid, trifid Branchiogenic nasopharyngeal cysts (rare) Mills CP. A branchiogenic cyst of the nasopharynx. J Laryngol Otol 1959;73:191-2 2nd Pouch Anomalies Thyroglossal Duct Cyst Lingual Thyroid 3rd/4th Pouch Anomalies Thymic cysts Accessory/undescended parathyroid glands DiGeorge Syndrome Thymic and parathyroid aplasia Branchial Cleft Anomalies Due to improper fusion/obliteration of the branchial clefts 1st cleft: microtia, EAC atresia, pits, tags, cysts, sinuses, fistulae 2nd cleft: microtia, cysts, sinuses, fistulae 3rd cleft: cysts, sinuses 4th cleft: cysts, sinuses Definitions Cyst – no communication with skin or foregut Sinus – communication with either skin or foregut Fistula – communication with both skin and foregut All are due to failed obliteration of branchial cleft st 1 Branchial Cleft Cyst/Sinus/Fistula 8-10% of branchial cleft/pouch anomalies Female predominance Left side predominance, especially for sinuses/fistulae Cysts 2x more common than sinuses or fistulae Often delayed diagnosis with multiple infections Goff CJ, Allred C, Glade RS. Current management of congenital branchial cleft cysts, sinuses, and fistulae. Curr Opin Otolaryngol Head Neck Surg. Dec 2012;20(6):533-9. st 1 Branchial Cleft Cyst/Sinus/Fistulae Type 1 Ectodermal origin Duplication of membranous EAC Typical Presentation Located within parotid gland No communication with EAC Lateral to facial nerve http://www.studyblue.com/notes/note/n/pediatrics/deck/1363622 st 1 Branchial Cleft Cyst/Sinus/Fistulae Type 2 Ecto- and mesodermal origin Contain skin and cartilage Duplication of membranous EAC and pinna Typical presentation: Inferior edge of mandible Communicates with EAC Extends into deep lobe of parotid Closely associated with facial nerve http://www.studyblue.com/notes/note/n/pediatrics/deck/1363622 Michalski, M. (2010), The Atlas of Emergency Medicine, 3rd edition. Emergency Medicine Australasia, 22: 357. fig 14.47 DDx? Benign inflammatory adenitis Dermoid cysts Cystic hygroma Neurofibroma Hemangioma Sarcoidosis Metastatic carcinoma Lymphoma Primary parotid tumor Imaging? Thought to be of limited value Recent opinion has proposed: CT when there is no sinus tract CT fistulogram when sinus tract present CT http://sumerdoc.blogspot.com/2010/04/first-branchial-cleft-cyst-ct.html Treatment Complete surgical excision, which may require: Superficial parotidectomy with facial nerve dissection Resection of portions of the EAC 2nd operation if middle ear involved Must clear infection before operating High recurrence rate Average 2.4 operations per patient nd 2 Branchial Cleft Cyst/Sinus/Fistula 67-93% of branchial cleft anomalies Most common branchial cleft anomaly Commonly unilateral Bilateral lesions may be associated with BOR syndrome http://medical-dictionary.thefreedictionary.com/branchial+cyst nd 2 Branchial Cleft Cyst/Sinus/Fistula Cysts Affect both genders equally Affect both sides equally Classically present as painless mass anterior to SCM, acutely enlarged after URI Majority diagnosed in 3rd5th decades of life http://medical-dictionary.thefreedictionary.com/branchial+cyst nd 2 Branchial Cleft Cyst/Sinus/Fistula Sinuses/Fistulae Slight female predominance Minor tendency to right side Classically diagnosed by age 5 due to classic appearance of external skin opening and common mucoid drainage G. Somayaji, R. Aroor, M. D, R. S: Complete Fistula of the 2nd Branchial cleft: Report of a case with discussion on investigation and treatment aspects.. The Internet Journal of Head and Neck Surgery. 2010 Volume 4 Number 1. 2nd Branchial Cleft C/S/F Classic course of tract: Anterior to SCM Superficial to carotid http://www.studyblue.com/notes/note/n/pediatrics/deck/1363622 sheath Superficial to hypoglossal nerve Between ext/int carotid Superficial to glossopharyngeal nerve Terminates in tonsillar fossa 2nd Branchial Cleft C/S/F Cyst can lie anywhere along the tract Sinus connects to tonsillar fossa or to skin anterior to inferior aspect of SCM Fistula connects entire tract 2nd Branchial Cleft Cyst 4 types of Cysts 1 – superficial to anterior SCM 2 – adjacent to carotid sheath 3 – between int/ext carotids, extends toward pharynx 4 – deep to carotid sheath, abutting pharynx Mukherji et al: Imaging of congenital anomalies of the branchial apparatus. Neuroimaging Clin N Am 2000;10:75-93. http://www.ghorayeb.com/branchialcleft.html DDx? Metastatic malignant neoplasms Tuberculous cervical adenitis Cystic hygroma Hemangioma Dermoid cysts Primary lymphoma Carotid body tumors/aneurysms Aberrant thyroid nodules Suppurative lymph nodes Neurofibromas Lipomas Lymphangiomas Imaging/Workup? Recent opinion has proposed: If right sided: CT if palpable neck mass No CT if no palpable neck mass If left-sided: Microlaryngoscopy Contrast fistulogram used to define sinus/fistula tract FNA also used to aid diagnosis CT http://radiographics.rsna.org/content/30/3/781/F31.expansion.html CT Fistulogram Treatment Complete surgical excision, with preservation of surrounding neurovascular structures Cysts: Aspiration of cyst contents may aid dissection Lateral cysts best approached using elliptical incision along Langer’s lines Cysts medial to carotid sheath may be best approached intraorally Sinuses/Fistulae External sinuses may be approached using the “step-ladder” technique Must clear infection before operating “Step-Ladder” Technique Elliptical incision around external opening Dissection proceeds to level of hyoid 2nd transverse incision made at level of hyoid, dissected tract threaded through Minimizes scarring http://www.uptomed.ir/Digimed.ir/sabiston-2009/Sabiston_2009/HTML/684.htm Recurrence Rates 21% if history of prior surgery 14% if history of infection 3% if no history of surgery or infection rd th 3 /4 Branchial Cleft Cyst/Sinus/Fistula 3rd cleft: 2-8% 4th cleft: 1-2% Slight female preponderance 97% left sided Distinction between the two is controversial http://jcem.endojournals.org/content/96/10.cover-expansion rd th 3 /4 Branchial Cleft Cyst/Sinus/Fistula Variable presentation Neonates: Lateral neck cysts/abscesses and airway distress Non-neonates: Lateral cervical abscesses Recurrent acute suppurative thyroiditis http://jcem.endojournals.org/content/96/10.cover-expansion rd 3 Branchial Cleft Cyst/Sinus/Fistula Classic tract pathway: Anterior to SCM in lower http://www.studyblue.com/notes/note/n/pediatrics/deck/1363622 neck Deep to carotid Deep to glossopharyngeal nerve Superficial to hypoglossal Pierces thyrohyoid membrane superior to SLN Enters pyriform sinus th 4 Branchial Cleft Cyst/Sinus/Fistula Theoretical tract pathway: Anterior to SCM in lower neck Superficial to hypoglossal Deep to glossopharyngeal nerve Deep to carotid Loops around aorta on left, subclavian on right Pierces thyrohyoid membrane inferior to SLN Enters pyriform sinus Complete fistula has never been recorded Commonly begin in pyriform sinus and end in blind pouch in paratracheal region or thyroid gland http://www.studyblue.com/notes/note/n/pediatrics/deck/1363622 3rd vs 4th cleft anomalies Distinction controversial as anomalies both begin in pyriform sinus and end in a blind pouch in the paratracheal region Practical distinction made based on relationship to SLN: 3rd cleft anomaly pierces thyrohyoid membrane superior to SLN 4th cleft anomaly pierces thyrohyoid membrane inferior to SLN and superior to RLN Acute Suppurative Thyroiditis caused by MRSA J Korean Soc Pediatr Endocrinol. 2011 Aug;16(2):128-132. Korean DDx? Lymphadenitis Cystic hygroma Atypical TGD remnants Thymic cysts Ectopic thyroid tissue Tuberculous adenitis Lymphoma Hemangioma Metastatic malignant neoplasm Imaging/Workup? Must clear infection before any imaging (at least 6 weeks) Guiding principle is identification of pyriform sinus tract May be identified by: Barium pharyngoesophagram (recommended for all patients) Flexible fiberoptic nasopharyngoscopy Plain radiograph (air within cyst) CT/MRI may be helpful FNA important to confirm cystic mass CT CT http://emedicine.medscape.com/article/382803 Treatment Complete surgical excision, with resection of piriform attachment is definitive treatment Must clear infection before definitive resection Exception for neonates with respiratory distress Initial I&D and marsupialization Delayed definitive excision Surgical excision includes exposure of the pyriform sinus, ligation and division of tract at origin, and retrograde dissection to the end of the tract Thyroid lobectomy is sometimes required Care must be taken to preserve parathyroids and RLN Sclerotherapy Evolving as potential treatment for branchial cysts and sinuses Currently used for vascular and lymphatic malformations Involves injecting a sclerosing agent into the anomaly to induce closure of the cyst/sinus 2 small studies using OK-432 (Picibanil) in cysts Roh et al: 58% complete regression, 25% partial response Kim et al: 60.8% complete regression Single case report using sodium tetradecyl sulphate (STD) in a sinus Syndromic Associations Treacher-Collins Syndrome Pierre-Robin Sequence DiGeorge Syndrome Goldenhar Syndrome (OAV Syndrome) Hemifacial microsomia Branchio-Oto-Renal Syndrome Treacher-Collins Syndrome 1st Arch Mandibulofacial dysostosis Autosomal Dominant TCOF1 gene Gene product: treacle, a nucleolar protein Thought to involve abnormal neural crest migration Features Midface and mandibular hypoplasia Ear anomalies: microtia, anotia, stenosis or atresia of EAC, malformation of malleus and incus (CHL) Eye anomalies: coloboma of lower lids, down-sloping palpebral fissures Cleft palate Treacher-Collins Ccakids.com/Lp_treacher_collins_samg_5-u5549.jpg Pierre-Robin Sequence 1st Arch 3 main features: Micrognathia (primary insult) Glossoptosis Cleft Palate (U-shaped) DiGeorge Syndrome 4th pouch Thymic and parathyroid aplasia Partial deletion of Chromosome 22 CATCH-22 mnemonic Cardiac anomalies Abnormal facies Thymic aplasia Cleft palate Hypocalcemia Chromosome 22 Goldenhar Syndrome AKA Oculo-Auriculo-Vertebral syndrome 1st and 2nd Arch Multifactorial genetic cause Typical findings Hemifacial microsomia: Incomplete development of ear, nose, soft palate, lip, and mandible, usually on one side of the body Aplastic or underdeveloped organs on one side of body Also: Severe scoliosis, limbal dermoids, hearing loss, deafness, blindness Hemifacial Microsomia http://www.craniofacial.net/syndromes-hemifacial-microsomia Branchio-Oto-Renal Syndrome Autosomal dominant Deficiency of differentiation of 1st and 2nd arches Renal anomalies Branchial fistulae/cysts Malformations of outer, middle, and inner ear Associated with CHL, CNHL, and mixed HL Renal Malformations Ranging from mild aplasia to agenesis Branchio-otic syndrome (BOS) If no renal malformations Branchio-Oto-Renal Syndrome Diagnosis If no family history, 3 major or 2 major and 2 minor If family history, 1 major Branchio-Oto-Renal Syndrome Genetics BOR1 – EYA1 gene mutation (40% of BOR) BOR2 – SIX5 gene mutation (5% of BOR) BOR3 – SIX1 gene mutation (2 families with BOR) Objectives Embryology of the Branchial Apparatus 1st – 4th Arch Anomalies 1st – 4th Pouch Anomalies 1st – 4th Cleft Anomalies (Cysts, sinuses, and fistulae) Workup Surgical management Syndromic Associations Questions? Thank You! References Flint, Paul W., and Charles W. 1935- Cummings. Cummings Otolaryngology Head & Neck Surgery. Philadelphia, PA: Mosby/Elsevier, 2010. Chapter 181. Anatomy and Developmental embryology of the Head and Neck. Goff CJ, Allred C, Glade RS. Current management of congenital branchial cleft cysts, sinuses, and fistulae. Curr Opin Otolaryngol Head Neck Surg. Dec 2012;20(6):533-9. Kim MG, Lee NH, Ban JH, et al. Sclerotherapy of branchial cleft cysts using OK-432. Otolaryngol Head Neck Surg 2009; 141:329– 334. Mandell DL. Head and Neck Anomalies Related to the Branchial Apparatus. Oto Clinics of North America. Dec 2000;33(6) Nixon PP, Healey AE. Treatment of a branchial sinus tract by sclerotherapy. Dentomaxillofac Radiol 2011; 40:130–132 Roh JL, Sung MW, Hyun Kim K, Il Park C. Treatment of branchial cleft cyst with intracystic injection of OK-432. Acta Otolaryngol 2006; 126:510–514. Smith RJH. Branchiootorenal Spectrum Disorders. 1999 Mar 19 [Updated 2013 Jun 20]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1380/ Somayaji G, Aroor, R Complete Fistula of the second Branchial cleft: Report of a case with discussion on investigation and treatment aspects.. The Internet Journal of Head and Neck Surgery. 2010 Volume 4 Number 1 Waldhausen JH (May 2006). "Branchial cleft and arch anomalies in children". Seminars in pediatric surgery 15 (2): 64–9 Image References http://sumerdoc.blogspot.com/2010/04/first-branchial-cleft-cyst-ct.html http://www.ghorayeb.com/branchialcleft.html http://medical-dictionary.thefreedictionary.com/branchial+cyst http://radiographics.rsna.org/content/30/3/781/F31.expansion.html http://www.uptomed.ir/Digimed.ir/sabiston-2009/Sabiston_2009/HTML/684.htm http://www.studyblue.com/notes/note/n/pediatrics/deck/1363622 http://www.craniofacial.net/syndromes-hemifacial-microsomia http://jcem.endojournals.org/content/96/10.cover-expansion Mills CP. A branchiogenic cyst of the nasopharynx. J Laryngol Otol 1959;73:191-2 Mukherji et al: Imaging of congenital anomalies of the branchial apparatus. Neuroimaging Clin N Am 2000;10:75-93. Michalski, M. (2010), The Atlas of Emergency Medicine, 3rd edition. Emergency Medicine Australasia, 22: 357. fig 14.47