Download Branchial Cleft Anomalies

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