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

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ospital, Patel Nagar, Dehrad

91 135 2720151.-mail address: dr_triptimaith

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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).

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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.

References

1. Yilmaz YF, Titiz A, Kutlay NY, Ozcan M, Unal A. Congenital

bilateral parotid gland agenesis in Klinefelter syndrome. J Cranio-

Maxillofac Surg. 2010;38(4):248–250.

2. Seith AB, Gadodia A, Sharma R, Parshad R. Unilateral parotid

agenesis associated with pleomorphic adenoma of ipsilateral

accessory parotid gland. Ear Nose Throat J. 2013;92(1):E13.

56 T. Maithani et al.

3. Sichel JY, Halperin D, Dano I, Dangoor E. Clinical update on type

II first branchial cleft cysts. Laryngoscope. 1998;108(10):1524–1527.

4. Johns ME. The salivary glands: anatomy and embryology. Otolar-

yngol Clin North Am. 1977;10:261–271.

5. Klein RM. Development, structure, functions of salivary glands. In:

Avery JK, ed. Oral development and histology. Germany: Thiemes

Verlag; 2002.

6. Whyte AM, Hayward MWJ. Agenesis of salivary glands: a report

of two cases. Br J Radiol. 1989;62:1023–1026.

7. Gaisford JC, Anderson VS. First branchial cleft cyst and sinuses.

Plast Reconstr Surg. 1975;55:299–304.

8. Work W. Newer concepts of first branchial cleft defects. Laryngo-

scope. 1972;82:1581–1593.

9. Bradbury EP. Absence of saliva. Boston Med Surg J. 1879;100:342.

10. Martn-Granizo R, Garca-Gonzalez D. Unilateral agenesis of the

parotid gland: a case report. Oral Surg Oral Med Oral Pathol Oral

Radiol Endod. 2004;98:712–714.

11. Kubo S, Abe K, Ureshino T, Oka M. Aplasia of the submandib-

ular gland. A case report. J Craniomaxillofac Surg.

1990;18:119–121.

12. Bakir S, Gumus H, Varolgunes A, Meric F. Unilateral absence of

parotid gland: a rare disorder. J Clin Exp Invest. 2011;2(1):88–90.

13. Dikes MG, Chapman J, Stafford ND. Per-oral excision of a

branchial cyst. J Laryngol Otol. 1990;104:143–144.