First Report of Multiple Branchial Cleft Anomalies in Conjunction

First Report of Multiple Branchial Cleft Anomalies in Conjunction with a Congenital
Dermal Fistula of the Lower Extremity
Ryan Winters, M.D.1; J. Lindhe Guarisco, M.D.1,2
1Tulane University Department of Otolaryngology - Head & Neck Surgery,
2Ochsner Clinic Foundation Department of Otolaryngology - Head & Neck Surgery
ABSTRACT
Educational Objective: At the
conclusion of this presentation, the
participants should be able to describe
the first case of multiple branchial cleft
anomalies in conjunction with a
peripheral dermal fistula tract of the
ipsilateral lower extremity.
Objectives: To describe the first
reported case of 1st and 2nd branchial
cleft anomalies in conjunction with an
ipsilateral peripheral dermal fistula of
the lower extremity.
Study Design: Case report
Methods: Multiple branchial cleft
anomalies in a single patient are a rare
occurrence and have never been
reported in conjunction with a
peripheral dermal fistula tract. Our
description of such a peripheral dermal
fistula of the lower extremity represents
only the second report of this peripheral
phenomenon in the literature
Results: The first report of a child with
a right 1st branchial cleft fistula and a
right 2nd branchial cleft fistula,
occurring in conjunction with an
ipsilateral peripheral dermal fistula,
connecting the skin of the calf with the
skin of the dorsal foot, is detailed.
Genetic testing revealed nothing
consistent with a known syndrome, and
possible embryologic etiologies are
discuss
Conclusions: Despite extensive
genetic testing and clinical and
laboratory workup, no definitive
syndrome was identified. We present
the first case of multiple ipsilateral
branchial cleft anomalies together with
an ipsilateral, lower extremity
cutaneous dermal fistula.
CONTACT
Ryan Winters, M.D.
Tulane University Department of
Otolaryngology - Head & Neck Surgery
Email: rwinters@tulane.edu
Phone: (504) 988-5454
Poster Design & Printing by Genigraphics® - 800.790.4001
CASE REPORT
A 9 year old Caucasian female presented for
evaluation of a draining punctum of the skin of the
right anterior neck. This lesion had been present for
her entire life, and had always had a scant mucoid
discharge. For 3 days prior to her presentation she
had increased foul-smelling purulent drainage
accompanied by sore throat and neck pain.
Physical examination was remarkable for an
enlarged, medialized right tonsil with peritonsillar
abscess, as well as a punctum of the right
preauricular skin. This preauricular punctum was
nontender, and scant mucoid fluid was expressible
with palpation. The parents noted that her
preauricular area would become tender and
edematous with upper respiratory infections (URI),
occasionally developing a palpable, cordlike
subcutaneous lesion extending toward her external
ear. Examination of the ears revealed a 10%
posterior superior perforation of the tympanic
membrane. No otorrhea was present, and the family
denied a history of recurrent otitis or otorrhea
associated with URI. The remainder of a head and
neck examination was unremarkable. Examination
of the extremities revealed a punctum on the dorsum
of the right foot, where mucoid fluid could be
expressed with palpation. The family reported she
had a similar lesion on the posterior right calf.
These lesions had become periodically infected in
the past, with development of erythema and edema
extending down the lateral leg to the foot,
accompanied by purulent drainage. This calf lesion
had been incised and drained in the past, but the
infection had recurred since drainage.
Developmentally, she reached all of her milestones
appropriately, and was consistently in the 40th
percentile in height, weight and head circumference.
Her past medical history was remarkable for
multiple other congenital anomalies including atrial
septal and ventricular septal defects repaired in
infancy, as well as congenital renal anomalies
requiring right nephrectomy and bilateral ureteral
implantation. She was born at 32 weeks gestation
due to maternal preeclampsia, and she was noted to
have a 2-vessel umbilical cord after delivery.
Computed tomography (CT) of the head and
neck with contrast was performed, which revealed
an infected sinus tract consistent with a 2nd branchial
cleft fistula extending from the right tonsillar fossa to
the right anterior neck. A subcutaneous cystic
lesion, 1cm in greatest dimension, was noted in the
right preauricular area, with no evidence of
extension or sinus tract to the ear. The patient
underwent successful abscess tonsillectomy and
excision of the infected 2nd branchial cleft fistula.
Intraoperative fistulogram with gastrograffin
confirmed the path of the 2nd branchial cleft fistula
extending from the tonsillar fossa to the skin of the
neck. Intraoperative fistulogram of the 1st branchial
cleft cyst, first with methylene blue, then with
gastrograffin, demonstrated no fistula to the middle
ear and confirmed this as a 1st branchial cleft cyst.
The patient did well postoperatively and has
had no recurrence of the 2nd branchial cleft fistula,
nor recurrent infections of either the 1st branchial
cleft cyst or the peripheral cutaneous fistula of the
leg. Medical genetics workup has yielded a normal
chromosomal analysis, acetylcarnitine and carnitine
profiles, and no evidence of microdeletion of
chromosome 22q11.2. No recognized syndrome has
been documented, and the patient appears to have
multiple congenital anomalies in association with a
single umbilical artery. Orthopedic evaluation of the
lower extremities was otherwise unremarkable, and
the patient does not suffer any limitations to the use
of her right foot.
DISCUSSION
RESULTS
External appearance of 1st branchial cleft cyst (left) together with intraoperative fluoroscopic fistulogram (middle) and CT with contrast (right).
Arrow denotes 1st branchial cleft cyst in each image.
Intraoperative fistulogram demonstrating
2nd branchial cleft fistula from right tonsillar
fossa (arrow) to skin anterior to right
sternocleidomastoid (double arrow).
CT with contrast of infected
2nd branchial cleft fistula
with peritonsillar abscess
(top, arrow) passing through
neck (middle, arrow) opening
onto skin of neck anterior to
right SCM (bottom, arrow).
Punctum of fistula on lateral dorsum of right
Foot (arrow). Mucoid fluid could be expressed.
There are various theories as to the embryogenesis of branchial cleft
anomalies. Vestigial remnant theory proposes some portion of a
branchial cleft or cervical sinus of His fails to completely obliterate
during embryologic development, and this results in a cyst, sinus or
fistula persisting after birth. Cell rest theory proposes cells become
trapped within the branchial apparatus during embryogenesis, and
that the persistence of these cells into the fetal stage and after birth
can lead to cyst, sinus or fistula formation1. These remnants typically
present in the pediatric population, though may go unnoticed into
adulthood. 97-98% are unilateral, and only 2 cases of combined 1st
and 2nd branchial cleft anomalies have been described, to our
knowledge, in the English language literature2.
The 1st branchial cleft gives rise to the maxilla, mandible,
Eustachian tube, external auditory canal (EAC), and some structures
of the middle ear. Embryogenesis is completed in weeks 6-7, and if
remnants of the 1st branchial cleft are present, they are already
present at this time. From weeks 6-8, the facial nerve and parotid
gland are developing from endoderm in the mouth and ear, and
migrating toward their adult positions. For this reason, the
relationship of any 1st branchial cleft remnants with the facial nerve
and parotid is variable. Work categorized 1st branchial cleft remnants
into two types: Type I are characterized by duplication of the EAC
and lie parallel to it and lateral to the facial nerve, with a preauricular
skin opening. Type II open onto the skin posterior or inferior to the
angle of the mandible, with a sinus tract intimately associated with
the facial nerve or parotid gland, and a variable course3. Given the
diverse structures of 1st branchial cleft origin, it is not surprising that
the anatomic location is highly variable. They can open anywhere
along the nasopharynx, EAC or into the middle ear, can lie anterior
or posterior to the pinna, extend below the angle of the mandible,
and involve the parotid gland, or lie completely superficial to it1.
The 2nd branchial cleft gives rise to the facial muscles, styloid
process, pinna, and certain middle ear structures. As with
development of 1st branchial cleft structures, embryogenesis is
complete by weeks 6-7, The classic course of a 2nd branchial cleft
fistula begins with an opening onto the skin at the anterior border of
the sternocleidomastoid (SCM) muscle, at the junction of the lower
1/3 and upper 2/3. The fistula passes deep to platysma, along the
carotid sheath between the external (ECA) and internal (ICA) carotid
arteries, superficial to CN IX and XII, with a pharyngeal opening
around the faucial tonsil. Bailey categorized 2nd branchial cleft
remnants into four types: Type I is superficial. It runs deep to
platysma, but superficial to SCM. Type II is the most common type.
Runs from the dermal opening, deep to platysma, and may intimately
associate itself with the internal jugular vein. It is generally accepted
to represent persistence of the cervical sinus of His. Type III follows
the course of a Type II, runs between the ICA and ECA and opens
into the lateral pharyngeal wall. Rarely, a projection may extend
superiorly, nearing the skull base. Type IV opens into and abuts the
pharyngeal wall, and may represent a remnant of a pharyngeal
pouch1.
Embryogenesis of the lower limb is an active area of ongoing
research. It begins in week 3, when the primordial lower limb bud is
first visible. Skeletogenesis and limb bud formation proper begins in
week 5. Rapid changes of the malleoli and talus occur in week 8,
with the talus extracting itself from the malleoli, and all adult foot
structures are present by the end of week 8. Boehm described four
stages of foot development: Stage 1 (2nd gestational month): the foot
is 90o equines and adducted. Stage 2 (early 3rd gestational month):
The foot is 90o equines, adducted and supinated. Stage 3 (middle 3rd
month): The foot dorsiflexes, mild equines remains. Remains
supinated and 1st metatarsal remains adducted. Stage 4 (4th month):
The foot begins to pronate and reaches midsupination. Slight
metatarsus varus remains, but equines is no longer present4. It is
certainly possible to hypothesize that such a fistula could form
around week 8, when the foot is undergoing rapid development as
the talus extracts from the malleoli. If any aberrant cells were
present during this time, they could lead to fistula formation, or failure
of fusion of developmental planes could lead to persistent fistula,
similar to cell rest theory and vestigial remnant theory.
REFERENCES
1. Benson, M.T., Dalen, K., Mancuso, A.A., et al. Congenital
anomalies of the branchial apparatus: Embryology and
pathologic anatomy. Radiographics 1992;12:943-60.
2. Gupta, A.K., Kumar, S., Jain, A. Bilateral first and second
branchial cleft fistulas: A case report. Ear Nose Throat J
2008, 87(5):291-3.
3. Ankur, G., Bhalla, A.S., Sharma, R. First branchial cleft cyst
(type II). Ear Nose Throat J 2009;88(11):1194-5.
4. Boehm, M. The embryologic origin of club foot. J Bone Joint
Surg 1929;11:229.
5. Lusskin, R. Serpentine sinus – a tract leading nowhere:
Congenital peripheral dermal tract. J Bone Joint Surg Am 1961:43;11822.
CONCLUSIONS
We present the first case of concurrent existence of a 1st
branchial cleft cyst, a 2nd branchial cleft fistula and a
peripheral dermal fistula of the lower extremity. No known
syndrome was present in this patient, though multiple
congenital anomalies were present on the right side of the
body. This represents only the second documented case of
such a peripheral dermal sinus. Unfortunately,
development of such extremity fistulae remains an area of
speculation, and this case, like the only prior documented
case before it5, cannot conclusively comment on the origin.