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Egyptian Journal of Ear, Nose, Throat and Allied Sciences (2014) 15, 53–56
Egyptian Society of Ear, Nose, Throat and Allied Sciences
Egyptian Journal of Ear, Nose, Throat and Allied
Sciences
www.ejentas.com
ORIGINAL ARTICLE
Congenital agenesis of unilateral parotid gland
with ipsilateral type I first branchial cleft
anomaly: A rare presentation
Tripti Maithania,*, Apoorva Pandey
a, Seema Acharya
b
a Department of E.N.T, Shri Guru Ram Rai Institute of Medical & Health Sciences, Patel Nagar, Dehradun, Indiab Department of Pathology, Shri Guru Ram Rai Institute of Medical & Health Sciences, Patel Nagar, Dehradun, India
Received 8 August 2013; accepted 1 November 2013
Available online 23 November 2013
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KEYWORDS
Parotid agenesis;
First branchial cleft
anomalies
Corresponding author. Add
am Rai Institute of Medical
ospital, Patel Nagar, Dehrad
91 135 2720151.-mail address: dr_triptimaith
er review under responsibili
roat and Allied Sciences.
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90-0740 ª 2013 Production
tp://dx.doi.org/10.1016/j.ejen
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Abstract Aim: To report a rare case of unilateral parotid agenesis with ipsilateral type I first
branchial cleft anomaly.
Material and methods: A case study with special emphasis on the embryology, outlining the
complex developmental process of parotid and branchial arches and highlighting the probable
reason for development of such anomalies.
Results: The literature states that unilateral parotid agenesis is a rare entity with few reported
cases occurring solely or in conjunction with other head and neck anomalies. In our attempts to
find its association with first branchial cleft anomalies we found a single reported case of parotid
agenesis with type II first branchial cleft anomaly; thus to the best of our knowledge this is first case
of unilateral parotid agenesis with ipsilateral type I first branchial cleft anomaly.
Conclusions: Unilateral parotid agenesis is usually asymptomatic and is generally diagnosed
when it occurs along with other head and neck conditions.ª 2013 Production and hosting by Elsevier B.V. on behalf of Egyptian Society of Ear, Nose, Throat and
Allied Sciences.
artment of E.N.T, Shri Guru
th Sciences, Mahant Indiresh
. Tel.: +91 9997957987; fax:
oo.com (T. Maithani).
yptian Society of Ear, Nose,
g by Elsevier
ng by Elsevier B.V. on behalf of E
1.001
1. Introduction
Congenital agenesis of parotid gland is uncommon. Thiscondition is usually asymptomatic and its diagnosis isgenerally made in light of accompanying developmental
anomalies.1 As parotid agenesis is asymptomatic and goesunnoticed, thus the true incidence of this condition isunknown. Till date about 32 cases of salivary gland aplasia
have been reported in the English literature2 and of these therewas just one case of parotid agenesis associated with type IIfirst branchial cleft anomaly.3 To the best of our knowledge
gyptian Society of Ear, Nose, Throat and Allied Sciences.
54 T. Maithani et al.
we report the first case of unilateral parotid agenesis associatedwith type I first branchial cleft anomaly.
2. Case report
A young male 21 years of age presented in our outpatientdepartment complaining of recurrent swelling over left parotid
region since 3 years. Swelling was painful and associated withdischarge from a pit present on the left side of neck. Patienthad undergone incision and drainage for the same 1 year
ago. Apart from this there was history of recurrent gingivitis.However there were no complaints of ear discharge, drynessof mouth or eyes. On examination there was a scar mark
present in the left parotid region and a sinus present on leftinfra-auricular region just behind mandibular ramus(Fig. 1a) about 0.5 · 0.5 cm in diameter. On palpation over
the parotid region an ill-defined swelling was found, milkingof which resulted into purulent discharge from the sinus inthe neck. Ear and nose examination was normal. Oral cavityexamination revealed multiple tobacco stained teeth with
chronic gingivitis. The papillae of right Stensen’s duct andbilateral Wharton’s duct were normal; however papillae of leftStensen’s duct could not be located. Oral cavity mucosa was
adequately moist. FNAC from swelling in the parotid regionwas suggestive of infected cyst with possibility of first bran-chial cleft anomaly. Sinogram showed pooling of contrast in
an irregular cavity. In MRI T1 weighted image revealedcomplete absence of the parotid gland on the left side withtethering and inward pulling of overlying skin likely due tofibrosis; T2 weighted sequence showed irregular fluid filled
cystic area in the parotid region (Fig. 2). Thus a diagnosis ofleft parotid agenesis with first branchial cleft anomaly was
Figure 1 (a) Pre-operative photograph showing a scar of previous inc
the infra-auricular region (black arrow); (b) standard face lift incis
intraoperative photograph depicting the passage of sinus tract (black ar
the absence of parotid tissue; (d) post operative specimen.
established. Surgical resection of the sinus tract was planned.A standard face lift incision was given including a cuff of theskin around the sinus opening (Fig. 1b). The facial nerve was
identified the moment the SMAS flap was elevated. The sinustract was found to run in between the branches of the facialnerve (Fig. 1c) terminating as cul-de-sac near the cartilaginous
part of the external auditory canal, without communicatingwith the same. The tract was excised Toto (Fig. 1d) and thespecimen was sent for HPE. Postoperative period was unevent-
ful. Histopathology report revealed Work’s type I first bran-chial cleft anomaly. Our patient is asymptomatic 8 monthsfollowing surgery and is maintaining a regular follow-up.
3. Embryology
Formation of head and neck is a complex process that begins
very early in human development and most congenital malfor-mations of head and neck originate as the branchial archestransform into their adult derivatives. The major salivaryglands develop embryologically during the 6th to 8th weeks
of gestation. The parotid gland is the first to develop followedby submandibular and sublingual salivary glands. Its develop-ment begins roughly around 6 weeks in utero,4 in the 7th week
it moves in dorsal and lateral directions to reside in the pre-auricular region and by the 10th week the facial nerve dividesthe parotid gland into superficial and deep compartments.
The development of glandular tissue in mammals involvesinteraction of epithelium with underlying mesenchyme to formthe functional part of the gland. This epithelial–mesenchymalinteraction regulates the initiation, growth and eventual
cytodifferentiation within the salivary glands.5 An unknowndisturbance in this process can result in a rare presentation
ision and drainage (white arrow) in the parotid region and sinus in
ion including a cuff of the skin around the sinus opening; (c)
row) in between the branches of the facial nerve (white arrow) with
Figure 2 MR images: T1 sequence revealing complete absence of the parotid gland on the left side with tethering and inward pulling of
the overlying skin (thin white arrow) likely due to fibrosis; T2 aided sequence shows irregular fluid filled cystic area in the parotid region
(thick white arrow).
Congenital agenesis of unilateral parotid gland with ipsilateral type I first branchial cleft anomaly: A rare presentation 55
of agenesis of the salivary glands. This agenesis may be a fea-ture of first and second branchial arch anomalies and occa-sionally may be seen in mandibulofacial dysostosis as well as
hemifacial microsomia.6
Branchial apparatus begins to form in the second week offetal life and is completed by the 6th or 7th week. The patho-
genesis of first branchial cleft anomalies remains controversial.The proposed theories are incomplete obliteration of fetalbranchial arches, pouches or both specifically, the lack of
degeneration of cervical sinus of His.7 Work divided firstbranchial cleft anomalies into two types based on embryologiccriteria. The Work type I cysts are derived from ectoderm andrepresents a duplication anomaly of membranous external
auditory canal, whereas type II cysts are derived from bothectoderm and mesoderm thus involving both the externalauditory canal and cartilaginous pinna.8
4. Discussion
Parotid agenesis is a rare entity. The first case of parotid
aplasia with resultant absence of saliva was described byBradbury in 1879.9 Agenesis may be partial or total, unilateralor bilateral and may be associated with other salivary gland
agenesis. Unilateral absence of the parotid gland has been re-ported less commonly than bilateral absences in the litera-ture.10 This condition may exist alone or in conjunction with
ectodermal defects of the first and second branchial arches.2
The exact etiology and pathogenesis of agenesis has not beenestablished however it is likely due to unknown arrest inorganogenesis11 and represents problems in morphogenesis
of the first and second brancial arches. This was probablythe reason for the development of a rare case of parotid agen-esis with type I first brancial cleft anomaly in our patient.
The majority of patients with unilateral parotid agenesis areasymptomatic due to sufficient production of saliva by otherglands. However symptoms may range from facial asymmetry,
dry mouth, increased thirst, dental decay, gingival infectionsand difficulty in wearing dentures.12 Signs and symptoms offirst branchial anomalies include recurrent pre- and post-auric-
ular swelling, a fistula within the external auditory canal pre-senting as drainage, or a fistula below the angle of
mandible.13 A common occurrence is incision followed bydrainage. Our patient presented typically with recurrent swell-ing over the parotid region with a discharging sinus in the neck
and a history of incision and drainage for the same. Apartfrom this he also had complaints of recurrent gingivitis.
CT or MR imaging is useful in attaining diagnosis of par-
otid agenesis as well as for evaluation of branchial anomalies.In cases of agenesis MRI typically demonstrates anatomicallyabsent glands with glandular fossae being replaced by fat.2
Meanwhile branchial anomaly typically demonstrates a lowT1 weighted image and a high T2 weighted signal. FNAC isan important adjunct to clinical diagnosis in cases of branchialcleft anomalies. In our case clinical evaluation, FNAC and
MR imaging helped in establishing the diagnosis.Management of agenesis is supportive, including saliva sub-
stitutes, mouth washes and maintenance of oral hygiene; while
branchial anomalies are best treated by complete surgical exci-sion. Surgical approach to first branchial cleft anomalies mustinclude the possibility of exposure and protection of the facial
nerve. In our case complete excision of the tract with preserva-tion of the facial nerve was done and our patient remainssymptom free 8 months following the surgery.
5. Conclusion
Unilateral parotid agenesis is rare and its association with type
I first branchial cleft anomalies is even rarer. Majority of timesunilateral agenesis may go unnoticed as this condition isgenerally asymptomatic. Salivary agenesis is managedconservatively whereas first branchial cleft anomalies require
complete surgical excision of the tract.
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