CASE REPORT

Symptomatic Unilateral Submandibular Gland AplasiaAssociated with Ipsilateral Sublingual Gland Hypertrophy

Mehmet Yilmaz Æ Emin Karaman Æ Huseyin Isildak ÆOzgun Enver Æ Fahrettin Kilic

Published online: 16 June 2009

� Springer Science+Business Media, LLC 2009

Introduction

Aplasia or agenesis of the salivary gland is an uncommon

disorder. Since Gruber first described a case of bilateral

submandibular gland aplasia in 1885, about 30 cases have

been reported in the world medical literature [1]. One or all

of the glands may be absent. The absence of all major

salivary glands was the most frequently encountered pat-

tern in the reported cases [1, 2]. Other developmental

anomalies could be found in association with aplasia of the

salivary glands, such as atresia of the lacrimal puncta,

mandibulofacial dysostosis (Treacher-Collins syndrome),

or congenital malformations of the temporomandibular

component [3, 4]. Unilateral aplasia of the submandibular

gland is an extremely rare disorder and only 11 cases have

been reported since Bruno described the first case

encountered during a cadaver dissection in 1894. Most

reported cases of unilateral submandibular aplasia were

asymptomatic, probably because secretions from other

salivary glands compensated for the aplasia [5]. Congenital

unilateral absence of the submandibular gland is an isolated

phenomenon and may result from other unique defects of

early fetal development, unlike the cause of multiglandular

agenesis associated with other facial anomalies [6]. In this

study we report on a extremely rare case of isolated uni-

lateral submandibular aplasia presenting with xerostomia

and dysphagia which is associated with ipsilateral sublin-

gual gland hypertrophy.

Case Report

A 41-year-old woman presented to our hospital com-

plaining of dry lips and mouth, difficulty with swallowing

solid foods, heartburn, and changes in taste, over the pre-

vious 5 years. On intraoral examination, no dental or

periodontal disease was seen. The oral mucosa and sub-

mandibular papilla on both sides were normal. The sub-

mandibular gland was easily found on the left side by

bimanual palpation but was not found on the right side, and

no saliva was expelled from the right ductal orifice on

pressure of the right submandibular area. The teeth of the

patient were healthy and oral hygiene was good. The

general physical examination was normal. No additional

anomalies were present. Submandibular ultrasonography

(USG) showed the absence of the right submandibular

gland. Computed tomography (CT) showed complete

aplasia of the right submandibular gland with compensa-

tory hypertrophy of the ipsilateral sublingual gland

(Fig. 1). The left submandibular gland was in normal

position and of normal size. Other major salivary glands

were found to be normal, and no other neck lesions were

found on CT scans. Contrast-enhanced magnetic resonance

imaging (MRI) and scintigraphy were performed for fur-

ther characterization. The study demonstrated that the

sublingual mass had T1-weighted (Fig. 2) signal intensity

characteristics similar to those of the contralateral sub-

mandibular gland, and scintigraphic evaluation suggested

the absence of the right submandibular gland (Fig. 3). We

recommended palliative treatment to our patient in the

M. Yilmaz � E. Karaman � H. Isildak (&) � O. Enver

Department of Otorhinolaryngology, Cerrahpasa Medical

School, Istanbul University, Istanbul, Turkey

e-mail: mdhuseyin@gmail.com

F. Kilic

Department of Radiology, Cerrahpasa Medical School,

Istanbul University, Istanbul, Turkey

123

Dysphagia (2010) 25:70–72

DOI 10.1007/s00455-009-9238-8

form of increased oral fluid intake, oral moisturizers, and

synthetic saliva.

Discussion

Isolated unilateral major salivary gland aplasia is a rare

entity with only a few cases reported in the literature to

date. The true incidence of congenital submandibular gland

aplasia is unknown; our case represents the 12th reported

case. The major salivary glands originate from the prolif-

eration and ingrowth of the oral epithelium as a solid core

of cells into the underlying mesenchymal tissue between

the 4th and 12th weeks of intrauterine life. The parotid

glands appear during the fourth week of gestation in the

angle between the maxillary process and the mandibular

arch. The submandibular glands appear in the sixth week,

and the sublingual glands arise between the tongue and the

Fig. 1 Axial noncontrast cervical CT image reveals absence of the

right submandibular gland. The contralateral submandibular gland is

visualized (arrow)

Fig. 2 a Axial noncontrast fat-saturated T2-weighted MR image

shows normally located submandibular gland (arrow). Right

submandibular gland is absent from its normal anatomic region. bAxial noncontrast fat-saturated T2-weighted MR image shows a well-

defined mass (arrowhead) in the right sublingual space. The normal

left sublingual gland is visualized (arrow). c Axial contrast-enhanced

MR image demonstrates the right sublingual gland (arrowhead). The

contralateral submandibular gland (arrow) shows attenuation charac-

teristics similar to those of the right sublingual gland

Fig. 3 Scintigraphic evaluation suggested the absence of the right

submandibular gland

M. Yilmaz et al.: Submandibular Gland Aplasia 71

123

mandibular arch during the ninth week [7–9]. Aplasia of

the salivary gland may be partial or total; its cause is

uncertain but it is believed to result from a regional dis-

turbance in early fetal development [1, 6]. This entity can

accompany other developmental anomalies such as man-

dibulofacial dysostosis (Treacher-Collins syndrome), atre-

sia of the lacrimal puncta, or congenital malformations of

the temporomandibular component. These anomalies are

almost always seen in association with parotid gland

aplasias or multiple-gland agenesis. We did not encounter

any associated anomaly in the present case. In addition, all

other cases of unilateral submandibular gland aplasia

reported in the literature had no accompanying develop-

mental disorders. An increased incidence of dental caries,

dryness of the mouth, and difficulty eating and swallowing

are seen in patients with multiple-gland aplasia. Unilateral

aplasia can result in hypertrophy of the other gland [1, 10].

In our case the patient was symptomatic even though the

secretions of other glands compensated for it; this is the

second report of ipsilateral sublingual hypertrophy associ-

ated with unilateral submandibular aplasia. Scintigraphy

with Tc-pertechnatate, sialography, and CT were the

methods used in previous cases to demonstrate agenesis

[11]. The first case was found during a cadaver dissection

in 1894 and the second was detected by 99mTc-pertechne-

tate scintigraphy in 1978 [12]. In our patient we were able

to diagnose submandibular gland aplasia and compensatory

sublingual gland hypertrophy by using a combination of

USG, 99mTc-pertechnetate scintigraphy, CT, and MRI.

In conclusion, aplasia of some or all of the major sali-

vary glands is a rare disorder that can be symptomatic and

accompany hypertrophy of other major salivary glands.

Several radiographic options for diagnosis exist, and

treatment is geared toward increased dental hygiene and

tooth protection. Isolated unilateral major salivary gland

aplasia should be considered in the differential diagnosis of

dysphagia and xerostomia. Besides diabetes, cancer treat-

ments, and Sjogren’s syndrome, isolated unilateral major

salivary gland aplasia may be the cause of xerostomia. The

careful evaluation of patients with dryness of the mouth,

dental caries, and poor oral hygiene and the scanning of

patients with developmental anomalies may help in the

detection of new cases.

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M. Yilmaz MD

E. Karaman MD

H. Isildak MD

O. Enver MD

F. Kilic MD

72 M. Yilmaz et al.: Submandibular Gland Aplasia

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