Robert F.
YeiJon
INTRODUCTION
Embryologic developmental anomalies are fairly com-
mon in the pediatric population. Failure of involution
embryologic structures and duplication of structures can
lead to fistulas, sinuses, and cysts. These include first,
second, third, and fourth branchial deft anomalies (BCAs),
as well as preauricular cysts and sinuses and thyroglos-
sal duct cysts (TGDCs). A fistula has an opening from the
pharynx to the skin. A sinus is an incomplete fistula and
has an opening to either the pharynx or skin. A cyst is an
enclosed structure with no opening to the pharynx or skin.
Failure of migration or incomplete or excessive migration
of embryologic structures results in ectopic structures such
as lingual thyroid and ectopic thyroid. Failure of involu-
tion of the embryologic thyroglossal duct leads to for-
mation of TGDCs anywhere along the pathway from the
base of tongue, submental region, and the anterior neck.
Dermoid and epidermoid cysts arise from ectodermal tis-
sues. They represent early embryonic displacements of epi-
thelial nests.
These congenital anomalies may remain asymptom-
atic, not be obvious on clinical exam, and never require
any treatment. Alternatively, enlargement of the lesion may
lead to concern for possible malignancy or cosmetic defor-
mity. Mild infections, drainage, or abscess formation may
also occur. Enlarging and infected lesions and lesions that
interfere with normal functions are possible indications
for surgical excision.
Infected cysts and sinuses may be treated with oral or
intravenous antimicrobial agents. More severe infections
may require needle aspiration possibly guided by ultrasound
or computed tomography (Cf). Failure of these lesions to
respond to these interventions and severe infections and
abscesses may require incision and drainage. H~ inci-
sion and drainage should be used as the last resort when
other lesser measures have failed. The reason for avoiding
incision and drainage if possible is to avoid violation of
tissue planes and violation of the walls of the congenital
anomaly, which may possibly make complete excision at a
later date more difficult due to scarring and unclear extent
of the lesion. The definitive surgical excision may usually be
delayed until 3 to 4 years of age unless the severity warrants
earlier ex:dsion, which may be necessary at any age.
TGDCs are the most common congenital neck anomaly
in children. For BCA.s, the second BCA is most common. In
a series of 97 BCAs, 18% were first BCAs, 69% were second
BCAs, and 7% were third BCA.s (1). Thirty-two percent of
these lesions had infections previous to surgery and 71%
of those had more than one infection. Fistulas and sinuses
were infected more frequently ( 67%) than cysts (21%).
Diagnostic studies include Cf with contrast, magnetic
resonance imaging (MRI) with gadolinium contrast, ultra-
sound, and fine-needle aspiration. Of course the most
definitive diagnostic test is surgical excision with patho-
logic examination.
There have been recent reports showing efficacy of fine-
needle aspiration and sclerotherapy for selected second
BCA.s and TGDCs in adults with OK-432. In one series, 7/12
(58%) BCA.s treated with OK-432 had complete resolution
of the lesion (2). In another series, 14/23 ( 61%) BCAs had
complete resolution of the lesion (3). Unilocular lesions
had a higher success rate than multilocular lesions, which
had only partial or no response to OK-432. In a third
series, OK-432 was successful for resolution for 9/18 (50%)
second BCA.s and 5/11 (46%) TGDCs (4). Fever, pain, and
odynophagia may occur following OK-432 sclerotherapy.
First Branchial Cleft Anomalies
First BCA.s are not very common and are often confused
with other less complex: lesions. Any mass that is located
near the lobule of the ear may be a first BCA. The differ-
ential diagnosis includes lymph nodes, sebaceous cysts,
1607
1608 Section VI: Pediatric Otolaryngology

dermoid cysts, lymphatic vascular malformatiom, and

parotid and other tum.oiS. cr and MRI are critical prior to
any surgical intervention other than fine-needle aspiration.
Solid lesiom are likely to be lymph nodea and tumors.
Multilocular lesiom are likely to be lymphangiomas.
Cystic lesions filled with solid rather than fluid mate:ri.al
are likely to be dermoids. Fluid-:filled cystic lesions may be
simple cysts; however, it is possible that the fluid-:filled cys-
tic lesion may represent a first BCA (Fig. 106.1 ).
If a :first BCA is suspected, and a swge:ry for removal is
planned,. the critical point to keep in mind is that there
may be a deep portion of the lesion that may run medial
or lateral to the main ttunk of the facial nerve or between
branches (S,G).lf the deep portion offirst BCA lesion is not
removed along with the cystic portion, recurrence is likely.
Since the deep tract of the first BCA runs in proximity to
the facial nerve, injw:y of the facial nerve is possible unless Figu,. 106.2 Seventh nerve dissection is required to fully and
safely excise deep portion of first BCA. Note trunk of seventh
the facial nerve is first identified and p~. Then the nerve (white) with tract of first BCA adjacent to right side.
entire first BCA lesion can be safely removed. Facial nerve
monitoring and intraoperative testing are helpful for the
swgery makes the dissection and preservation of the facial
dissection (Fig. 106.2) (Thble 106.1).
nerve more difficult. which may result in a very challeng-
Thus, itis wise to suspect that any cystic lesion in proximity
ing surgery. Occasionally, a first BCA may present along the
to the lobule is possibly a first BCA with a deep ttact eztmd-
anterior border of the sternocleidomastoid muscle slightly
ing to the facial nerve. 1he lesion should be approached
lower in the neck than the inferior aspect of the lobule. It is
carefully, and if a deep tract is noted, then the facial nerve is
therefore also possible to confuse a first BCA with a second
identified and presen'ed prior to remowl of the deep ttact.
BCA that usually OCOJI'8 along the anterior border of the
First BCAs occur in two varieties as described by Work
sternocleidomastoid muscle in the midneck area.
(7). A Work type 1 :first BCA contains only ectoderm, often
has a pit in the atemal auditory canal, and is comidered
a duplication of the external auditory canal. A Work type 2 Second Branchial Cleft Anomalies
lesion will contain derivatives of two germ celllaym, ecto-
Second BCAs are the most common of the three types
derm and mesoderm.
of branchial deft lesiom. As noted above, these lesions
Since the relationship of the first BCA.s and the facial
commonly occur along the anterior border of the
nerve may not be recognized, it is not uncommon for a
swgeon to encounter a lesion that recurs following an
inadequate resection by another surgeon. In one seriea of
18 first BCA.s, 65% had undexgone incomplete surgery ANATOMIC PATHWAYS FOR DEEP
prior to referral (5). The scarring resulting from the first TRACT OF FIRST. SECOND, lHIRD,
AND FOURTH BCAS
•FirstBCA
o The tract may run medial or lateral to Ute main vunk of the
facial nerve or between branche$.
• Second BCA
o The deep tact runs between Ute internal and external carotid
arteries and superior to Ute glossopharyngeal and hypoglos-
sal nerves and finally ends at Ute tonsillar fossa.
• Third BCA
o The deep tract passes posterior to Ule internal and external
carotid arteries, between the 9th and 12ttl cranial nerves, and
ends in Ule apex of Ule pyrifonn sinus.
• Fourth BCA
o The deep tract begins witfl a sinus at Ule apex of 1he pyrifonn
sinus and travels inferiorly in 1fte tracheoesophageal groove,
posterior to 1fte thyroid gland, and into 1fte thorax. Next, it
loops below 1fte aorta on the left or below 1fte subclavian
artery on 1fte right and then ascends posterior to the common
carotid artery to loop over the hypoglossal nerve and ends at
Ute anterior border of Ute sternocleidomastoid muscle.
Figure 106.1 Surgical exposui'Q of first BCA..
 Chapter 106: Congenital Cysts and Sinuses of the Head and Neck 1609

Figure 106.3 Surgical c:~xdsion of bilateral second branchial deft

cysts In a child with BOR syndrome.
sternocleidomastoid muscle in the midneck region. Uke
the first BCAs, the second BCAs may also have a deep tract
(Ftg. 106.3). It is critical to Wlderstand the anatomic path of
1he second BCAs for safe and complete excision. The deep
tact runs between the internal and external carotid arter-
ies and superior to the gle»sopharyngeal and hypoglossal
nerves and finally ends at 1he tonsillar fossa {Table 106.1).
A particular cyst or sinus may or may not have a deep
extension. The swgeon must be prepared to dissect out a
possible deep tract 1hat ends at the tonsillar fossa and 1hen
tie off the tract If the deep portion is not dissected out and
excised, recurrence of 1he lesion is more likely. Gendy plac-
ing a lacrimal probe into the skin opening of a sinus or
fistula can help determine the direction and depth of the
tract. which may aid dissection, but care must be taken to
avoid rupturing the tract. 01her swgeons prefer to inject
methylene blue into 1he tract to aid dissection, but again
rupturing the tract can lead to staining of uninvolved tis-
sues and a more difficult dissection. If a branchial remnant
is infected, intravenous antimicrobial agents should be
administered. If an uninfected lesion is breached, a culture
should be taken and inttavenous antimicrobials should
be administered. Antimicrobials are not required for clean
cases wi1h no breach of 1he lesion.
Although some swgeons advocate excision of the tonsil
on the side of the lesion, most swgeons do not e:x.cise the
tonsil and tie off the tract close to the tonsillar fossa.
Figure 106.4 Third BCA with sinus opening into the pyriform
sinus. Fogarty catheter has been placad into sinus to facilitate dis·
section of deep tract to pyriform sinus.
near the 1hyroid gland to end as a sinus in the pyriform
sinus. Simple incision and drainage often leads to recur-
rence of the abscesses. The diagnosis is made by several
means. One is a thorough pharyngoscopy at the time of
incision and drainage thatshOWB a sinus tract in the apex of
1he pyriform sinus (Fig. 106.4). cr scan may show an air-
filled structure in the apex of the pyriform sinus or a cystic
structure with a deep extension approaching the pyriform
sinus (Fig. 106.5). Modified barium swallow may show a
barium-filled sinus in the apex of the piriform sinus.
To properly excise the 1hird BCA.s, the anatomic course
of 1he tract must be lmown. The tract of this anomaly
passes posterior to the internal and e:xte:mal carotid arter-
ies and between the ninth and twelfth cranial nerves and
ends in the apex of the pyriform sinus (Thble 106.1).
A small catheter placed in 1he sinus opening in the apex of
1he pyriform sinus is helpful prior to excision since palpa-
tion of1he ca1heter makes 1he tract easier to identify during
excision (Figs. 106.4 and 106.6). Hemithyroidectomy may

Third Branchial Cleft Anomalies

The 1hird and four1h BCA.s are rare, often misdiagnosed,
and thus often recurrent The most common presentation
is a cystic mass or abscess along the anterior border of the
sternocleidomastoid muscle in the mid- to lower neck
Over 90% occur on the left side (8,9). These lesions are
often misdiagnosed as recurrent neck abscesses or thyroid
abscesses or cysts. The key to diagnosis is to understand the
potential for these lesions to have a deep tract that mends Flgure106.S CT of third BCA.
1610 Section VI: Pediatric Otolaryngology

Thirteen of nineteen (68%) were successful with a single

procedure, 78% were successful with 2 procedures, and
89% were successful with 3 procedures. In two of five neo-
natal cases, open surgical e:x.dsion was required to relieve
Se"ree'e airway obstruction, one after failed endoscopic
treatment

PREAURICULAR CYSTS AND SINUSES

Embryologically, the six hillocks of His, derived from the
first and second branchial arclles, fuse to form the auricle.
A preauriallar cyBt or sinus arises from partial failure of
involution of the epithelium between the fu:st and second
hillocks. 1hese common congenital lesions usually have a
punctum anterior to the root of the helix (Fig. 106.7), a
short tract. and a sinus, which ends with an attachment to
Figure 106.6 Olssec:tlon of third BCA to pyriform sinus. the perichondrium of the root of the helix.
These lesions often remain asymptomatic. Howeve:t it is
be required for some third branchial cleft lesiom that are not uncommon for these lesions to leak a small amount of
intimately associated with the thyroid gland. mucoid discharge, or to get infected. Treatment of infected
Some recent reports have described success in treating preauricular sinuses includes oral antimicrobials, but nee-
third and fourth BCt\s by electrocaukly or laser of the sinus dle aspiration or incision and drainage may be required
opening in the pyriform apex (8,9). This approach may be for some infections/abscesses. Avoidance of incision and
helpful in very young or very ill children. This approach drainage is preferable if possible since violation of the
also makes the differentiation between the third and fourth sinus may make definitive surgical e:x.dsion more difficult
BCt\s irrelevant since the clinical pmentation and endo- due to scarring and less clear tissue planes.
scopic treatment are the same for both lesiom ( 8). A period of approximately 6 weeks is allowed following
infection of preauricular sinuses to allow for resolution of
inflammation. Swgical excision then can begin with gende
Fourth Branchial Cleft Anomalies
1he uncommon fourth BCA also has a sinus opening into
the pyriform sinus; haw~ the anatomic pathway diHers
from that of the third BCA. Indeed, it is often impossible to
discem whether a particular anomaly is a third or fourth BCA
without swgical dissecti.on. Over 90% occur on the left side
(8,9). The diagnosis ofa fourth BCA may be made by the fol-
lowing methods. These are the same methods used to iden-
tify the third BCAs. 'Ihorough phaJ:yngoscopy at the time of
incision and drainage will show a sinus tract in the apex of
the pyriform sinus. cr scan may show an air-filled structure
in the apex. of the pyriform sinus. Modified barium swallow
may show a bari.um-filled sinus in the apex of the pyriform
sinus. Similar to the third BCAs, the fourth BCAs are often
misdiagnosed as neck abscesses or :recunent thyroiditis.
The anatomic pathway of the tract of a fourth BCA
begins with a sinus at the apex. of the pyriform sinus and
travels inferiorly in the tracheoesophageal groove, poste-
rior to the thyroid gland, and into the thorax. Next, it loops
below the aorta on the left and below the subclavian artery
on the right and then ascends posterior to the common
carotid arteiy to loop over the hypoglossal nerve and ends
at the anterior border of the sternocleidomastoid muscle
(9) (Thble 106.1).
In one series, 19/20 third and fourth BCAs in children
were treated with endoscopic electrocautery or laser for
ablation of the sinus opening in the pyriform sinus (8). Figure 106.7 Preauricular sinus.
 Chapter 106: Congenital Cysts and Sinuses of the Head and Neck 1611

insertion of a small lacrimal probe into the punctum to

identify the direction of the sinus cavity, which almost
always goes to the perichondrium of the root of the helix.
The punctum should be excised using an elliptical inci-
sion. The tract and then sinus are then traced to the peri-
chondrium of the root of the helix. 1he pe:ri.ch.ondrium is
scored sha!ply and peeled off the cartilage of the root of
the helix (Fig. 106.8). Any associated scar tissue or granula-
tion tissue is excised along with the lesion. There is no con-
cern for injw:y to the facial nerve during dissection in the
preauricular area. 1he facial nerve is deeper and inferior to
the area of dissection.
It is not uncommon to see patients with recurrence of
preauricular cysts or sinuses following surgery. A portion
of the sinus may have been left in situ following surgery
complicated by sou;. inflammation, or granulation tissue.
It is very common that the attachment of the sinus to the Figure 106.9 Rec:urnance of ln~d preauricular sinus requiring
block dissection down to fasda.
root of the helix was left behind, and this is the focus of
the recurrent infection. For revision cases with abscess or
inflammation adjacent to the root of the helix. it is difficult of the root of the helix must be addressed. Again, the facial
to peel the perichondrium in this area off the helical carti- nerve is not at risk since the nerve is deep to the fascia and
lage. It is therefore recommended that the full thiclmess of inferior to the area of dissection. Local cheek advancement
cartilage is excised to assure complete removal. flaps are usually sufficient to allow closure of the wound.
Occasionally, a swgeon encounters a case of infected pre- Rarely a superiorly pedicled postauricular skin flap is
auricular sinus that has undagone multiple prior attempts rotated to fill the defect in the preauricular area.
at excision. For such cases, a block dissection is performed
in the preauricular area with excision of all the inBamed
BRANCHIOOTORENAL (MELNICK-
and scarred tissue down to the preauricular/parotid fascia FRASER) SYNDROME
(Fig. 106.9). As described above, the area of the cartilage
Patients with a combination of bilateral preauricular
sinuses, bilateral second or third BCAs in the neck, and
renal disease most likely have branchi.ootorenal (BOR)
syndrome (F'tg. 106.3) (10). This is an autosomal domi-
nant genetic syndrome with variable penetrance. It can be
detected prenatally with genetic testing. Hearing loss may
be conductive or sensorineural. The auricle may be nor-
mal. slightly anomalous, or microtia may be present. The
kidneys may be normal, anomalous but functioning, or
absent (Table 106.2).
If a child is found to have only bilateral preauricular
sinuses, the chance of hearing loss is 1 in 200. If a child is
found to have bilateral preauricular sinuses and bilateral

CLINICAL FINDINGS IN lOR

(MELNICK FRASER) SYNDROME (10)

• Hearing loss
• Preauricular pits
• Branchial fistulas or cysu
• Anomalous pinna
• Renal dysplnia
Figure 106.8 Dissection of preauriC1Jiar sinus down to parichon· From Melnick M. Hodes ME. Nance WE. et al. Blilnc:hio-oto-renal
drlum of root of helix. It Is Important to excise this perichondrium dysplasia and b!ilnc:hio-oto dyllplasia: two distinct autosomal dominant
to assuna complete excision. disorders. Clin Genet 1978;13:425-442.