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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 3  |  Issue : 3  |  Page : 171-175

Non-syndromic non-familial bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia: A rare congenital ectodermal defect


1 Department of Oral Pathology and Microbiology, Saraswati Dental College and Hospital, Lucknow, India
2 Department of Oral Medicine and Radiology, Saraswati Dental College and Hospital, Lucknow, India
3 Department of Oral Medicine and Radiology, Teerthanker Mahaveer Dental College and Research Centre, Moradabad, Uttar Pradesh, India
4 Department of Pediatric Dentistry, Teerthanker Mahaveer Dental College and Research Centre, Moradabad, Uttar Pradesh, India
5 Department of Oral Pathology and Microbiology, Teerthanker Mahaveer Dental College and Research Centre, Moradabad, Uttar Pradesh, India

Date of Web Publication7-Oct-2014

Correspondence Address:
Kunal Sah
Department of Oral Pathology and Microbiology, Saraswati Dental College and Hospital, Faizabad Road, 233 Tiwari Ganj, Lucknow - 227 105, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-0521.142337

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  Abstract 

Salivary gland agenesis is a rare disorder, which can appear singly or in combination with other genetic disorders. Bilateral parotid and submandibular salivary gland aplasia is an extremely rare condition found to be associated with mutation of gene encoding fibroblast growth factor (FGF) 10. Here, we present a rare case of non-syndromic non-familial bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia in a 7-year-old male patient.

Keywords: Parotid gland, salivary gland aplasia, submandibular gland, saliva, xerostomia


How to cite this article:
Sah K, Chandra S, Sidhu R, Rallan M, Rallan NS. Non-syndromic non-familial bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia: A rare congenital ectodermal defect. Saudi J Health Sci 2014;3:171-5

How to cite this URL:
Sah K, Chandra S, Sidhu R, Rallan M, Rallan NS. Non-syndromic non-familial bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia: A rare congenital ectodermal defect. Saudi J Health Sci [serial online] 2014 [cited 2021 May 13];3:171-5. Available from: https://www.saudijhealthsci.org/text.asp?2014/3/3/171/142337


  Introduction Top


Salivary glands develops from the epithelial down growth from the epithelial lining of the oral cavity in the form of buds, which further grow and proliferate into the underlying mesenchymal tissue forming cord followed by branching of cords, lobule formation, canalization of cords and at last cytodifferentiation. Development of parotid, submandibular, and sublingual glands starts during the fourth, sixth, and ninth week of gestation. [1],[2]

Salivary gland agenesis or aplasia is when the salivary glands fail to form. Bilateral congenital absence of the major salivary glands (parotid and submandibular) is an infrequent disorder. Congenital absence of major salivary glands can be associated with multiple other developmental anomalies or defects such as lacrimo-auriculo-dento-digital (LADD) syndrome, hemifacial microstomia, and ectodermal dysplasia. [3] Clinically, patient frequently complaints of dryness of the mouth, sore lips, difficulty in chewing or swallowing, and decayed tooth. [2],[4],[5]

Imaging is essential in its detection including plain radiography, sialography, ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI). [3] We report a rare case of bilateral parotid and submandibular salivary gland aplasia with lacrimal duct atresia in a 7-year-old boy.


  Case report Top


A 7-year-old boy reported with the chief complaint of persistent dryness of the mouth with difficulty in eating and swallowing, since birth. He also complained of occasional bleeding from the lip and decayed teeth associated with pain. He had being switching from solid foods to semisolid to liquid diet. The child use to take long time to eat and require water frequently. He also complained of dryness and irritability of eyes. For which he had consulted many times to the eye specialist; he was diagnosed and treated for occluded lacrimal duct but was not relieved. No other member of the family reported with similar complaints.

On physical examination, the general health of the child was good and intellectual development was considered normal. His face was bilaterally symmetrical and no other head and neck abnormality was detected. His eyes were dry and slightly erythematous. Hair and skin appeared normal (normal sweating). His lips were dry showing cracking [Figure 1]a and b. On palpation, parotid and submandibular areas appeared normal but no parotid and submandibular gland bulk or outline was appreciated.
Figure 1: (a) Photograph showing dryness of right buccal mucosa and lips. (b) Dryness of the left buccal mucosa with erythematous areas. (c) Anterior lateral view showing carious lesions. (d) Maxillary occlusal view showing mixed dentition with carious lesions

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Intraoral examination revealed that the boy was in mixed dentition period with extensive destruction of his teeth [Figure 1]c and d. His oral cavity was dry with focal areas of erythema in left buccal mucosa [Figure 1]a and b. The orifice of Sternson's duct, Warthon's duct, and Bartholin's duct was not visible. After intentional stimulation of salivary glands (major and minor) by vigorous massaging, a reduced amount of salivary secretions was appreciated; few droplets of saliva were seen on posterior lateral part of hard palate confirming presence of palatal minor salivary glands. A differential diagnosis of salivary gland hypoplasia/aplasia, LAAD syndrome, and ectodermal dysplasia was made.

Panoramic radiograph demonstrated mixed dentition period with few decayed teeth [Figure 2]. Ultrasound [Figure 3] and MRI (1.5 TESLA) of submandibular and parotid regions confirmed the absence of both parotid [Figure 4] and submandibular glands [Figure 5]; however, the sublingual glands could not be clearly visualized and hence, its presence was questionable.
Figure 2: Dental panoramic radiograph showing gross caries

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Figure 3: Ultrasound scan showing absence of salivary glands; Submandibular gland (Above) and Parotid gland (Below) marked by arrow

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Figure 4: Multiplanar Magnetic Resonance MR Image, coronal sections shows absence of bilateral parotid glands (arrows)

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Figure 5: Multiplanar Magnetic Resonance MR Image, axial sections demonstrates absence of bilateral submandibular glands (arrows)

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Audiometric test was done to detect hearing loss but was also non-contributory. Clinical features present in this case overlap with the features associated with LAAD syndrome, but was ruled out. [Table 1] Patient was referred to an ophthalmologist, where the dye disappearance test confirmed the diagnosis of nasolacrimal duct atresia. Traditional approach of treatment was followed by combined massage of the nasolacrimal sac and by prescribing antibiotic drops, three times daily to avoid recurrent infection, if any. In addition, probing under general anesthesia was planned.
Table 1: Diagnostic criteria

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Based on the clinical features and investigations done, a diagnosis of congenital bilateral parotid and submandibular salivary gland aplasia with atresia of the lacrimal duct was made.

Dental treatment consisted of oral prophylaxis and restoration of decayed/carious teeth. Preventive regimen was planned which included dietary counseling, topical fluoride varnish application, sealants, and daily fluoride mouth rinses. Child was advised to sip more water before, after, and during meals. Salivary substitute and sugar-free gums were prescribed to the patient. Regular dental check-ups were advised (every 2 months).


  Discussion Top


Aplasia of one or more of the major salivary glands is very rare. [6] The specific genetic mutation involved in agenesis of major salivary glands has not yet been identified. [3] Literature search revealed the parotid gland is more commonly affected than the submandibular glands. Aplasia can involve single gland or in combination, it can be unilateral or bilateral. Bilateral parotid and submandibular salivary gland aplasia is an extremely rare condition, which is present in this case. Young et al. and Hodgson et al. (2001), Singh et al. (2004), Mandel, Kwon et al. and Heath et al. (2006), Pham Dang N (2010), Taji SS et al. (2011), Yan Z et al. (2012), Xie L et al. (2013), and Mohan RP et al. (2013) also reported cases of bilateral major salivary gland aplasia. [5],[7],[8],[9],[10]

In few congenital disorders, major salivary glands aplasia or with other glands (such as the lacrimal and thyroid glands) are also observed, i.e. LADD syndrome, mandibulofacial dysostosis, and ectodermal dysplasia. [11],[12] Aplasia of salivary glands is associated with mutation of gene "loss of function" encoding FGF 10. [13]

Reduced salivary flow or xerostomia has an adverse effect on oral health, i.e. dry mouth with scaling or erythema, sore lips, and dysphagia, which has a major impact on oral health including rampant caries, accelerated periodontal disease, candidiasis, ascending sialadenitis, and recurrent oral and oropharyngeal inflammation. [3],[9],[10],[11] The present case also reported persistent dryness of the mouth (Xerostomia) with difficulty in eating and swallowing, scaling and erythema of the buccal mucosa, occasional bleeding from the lips (sore lips), and decayed teeth associated with pain. These findings are consistent with the previously reported cases.

Differential diagnosis of salivary gland agenesis should include ectodermal disorders i.e. LAAD syndrome, ectodermal dysplasia, etc. [14] Diagnosing salivary gland agenesis always poses a diagnostic challenge. The criteria that can assist in diagnosis are as follows: [3],[6]

  1. Xerostomia and its impact on oral health
  2. Search for major glandular duct orifices
  3. Stimulated salivary flow (sialometry) and Schirmer's test (for lacrimation)
  4. Labial or parotid biopsy, to exclude Sjogren's syndrome
  5. Imaging modalities
  • Plain/Conventional radiography
  • Sialography
  • Ultrasonography
  • Computed Tomography (CT)
  • Magnetic Resonance Imaging (MRI)
  • Radionuclide imaging using technetium (Tc 99m).


In the present case, ultrasonography and MRI of submandibular and parotid regions confirmed the absence of both submandibular and parotid glands, leading to the diagnosis of bilateral parotid and submandibular salivary gland aplasia.

Most of the reported cases of salivary gland aplasia are in association with LAAD syndrome. [12],[15]

Dental treatment comprises of oral prophylaxis, restorative treatment, and extraction of root stumps. Preventive regimen includes dietary counseling (sugar free), topical fluoride varnish application, sealants, and daily fluoride mouth rinses. Artificial carboxymethyl cellulose-based salivary substitute is generally prescribed [Table 2]. [14] Regular dental check-ups are essential for maintaining good oral health. [15]
Table 2: Dental management for reduced salivary flow rate

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The present case of bilateral parotid and submandibular salivary gland aplasia with lacrimal duct aplasia was diagnosed in a 7-year-old boy. To best of our knowledge, English literature search revealed that such cases are diagnosed more frequently during the first decade of life and do not show any sex predilection. Various authors had reported either unilateral or bilateral aplasia of one or more salivary glands with or without involvement of the lacrimal gland and other associated features, which are summarized in [Table 3].
Table 3: Few reported cases of unilateral or bilateral salivary gland aplasia

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Bilateral parotid and submandibular salivary gland aplasia is an extremely rare condition. It can be imaged with a variety of imaging modalities (Ultrasonography, MRI, Sialography, Radionuclide imaging using technetium, etc.) but still remains a diagnostic challenge. Differential diagnosis should include ectodermal disorders. Clinical features and investigations are helpful in differentiating with other disorders or diseases. Lifelong therapy utilizing salivary substitutes, topical fluoride, strict adherence to diet, and regular dental check-ups is essential for maintaining good oral health. Studies on molecular or genetic level on larger sample size should be carried out to identify additional linked gene.[17]

 
  References Top

1.Collins P. Embryology and development. In: Williams PL, editor. Gray's Anatomy: The Anatomical Basis of Medicine and Surgery. 38 th ed. New York: Churchill Livingstone; 1995. p. 175.  Back to cited text no. 1
    
2.Srinivasan A, Moyer JS, Mukherji SK. Unilateral submandibular gland aplasia associated with ipsilateral sublingual gland hypertrophy. AJNR Am J Neuroradiol 2006;27:2214-6.  Back to cited text no. 2
    
3.Heath N, Macleod I, Pearce R. Major salivary gland agenesis in a young child: Consequences for oral health. Int J Paediatr Dent 2006;16:431-4.  Back to cited text no. 3
    
4.Martn-Granizo R, Garca-González D. Unilateral agenesis of the parotid gland: A case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004;98:712-4.  Back to cited text no. 4
    
5.Mohan RP, Verma S, Chawa VR, Tyagi K. Non-syndromic non-familial agenesis of major salivary glands: A report of two cases with review of literature. J Clin Imaging Sci 2013;3(Suppl 1):2.  Back to cited text no. 5
    
6.Ahmed M, Strauss M, Kassaie A, Shotelersuk V, DeGuzman R. Bilateral submandibular gland aplasia with clinico-radiological mass due to prolapsing sublingual salivary tissue through mylohyoid boutonniere: A case report and review. Dentomaxillofac Radiol 2009;38:121-4.  Back to cited text no. 6
    
7.Pham Dang N, Picard M, Mondié JM, Barthélémy I. Complete congenital agenesis of all major salivary glands: A case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010;110:e23-7.  Back to cited text no. 7
    
8.Taji SS, Savage N, Holcombe T, Khan F, Seow WK. Congenital aplasia of the major salivary glands: Literature review and case report. Pediatr Dent 2011;33:113-8.  Back to cited text no. 8
    
9.Yan Z, Ding N, Liu X, Hua H. Congenital agenesis of all major salivary glands and absence of unilateral lacrimal puncta: A case report and review of the literature. Acta Otolaryngol 2012;132:671-5.  Back to cited text no. 9
    
10.Xie L, Yu CQ, Zheng LY. Bilateral aplasia of the major salivary glands and unilateral atresia of lacrimal duct. J Craniofac Surg 2013;24:e177-9.  Back to cited text no. 10
    
11.Singh P, Warnakulasuriya S. Aplasia of submandibular salivary glands associated with ectodermal dysplasia. J Oral Pathol Med 2004;33:634-6.  Back to cited text no. 11
    
12.Inan UU, Yilmaz MD, Demir Y, Degirmenci B, Ermis SS, Ozturk F. Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: Case report of a family and literature review. Int J Pediatr Otorhinolaryngol 2006;70:1307-14.  Back to cited text no. 12
    
13.Chapman DB, Shashi V, Kirse DJ. Case report: Aplasia of the lacrimal and major salivary glands (ALSG). Int J Pediatr Otorhinolaryngol 2009;73:899-901.  Back to cited text no. 13
    
14.Fracaro MS, Linnett VM, Hallett KB, Savage NW. Submandibular gland aplasia and progressive dental caries: A case report. Aust Dent J 2002;47:347-50.  Back to cited text no. 14
    
15.Mathrawala NR, Hegde RJ. Lacrimo-auriculo-dento-digital syndrome. J Indian Soc Pedod Prev Dent 2011;29:168-70.  Back to cited text no. 15
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16.Berta E, Bettega G, Jouk PS, Billy G, Nugues F, Morand B. Complete agenesis of major salivary glands. Int J Pediatr Otorhinolaryngol 2013;77:1782-5.  Back to cited text no. 16
    
17.Reija MF, Gordillo DP, Palacio JC, Abascal LB, Perea BG. Bilateral submandibular gland aplasia with hypertrophy of the sublingual glands of a patient with a cleft lip and palate: Case report. J Craniofac Surg 2013;24:e532-3.  Back to cited text no. 17
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
 
 
    Tables

  [Table 1], [Table 2], [Table 3]



 

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