Unilateral Submandibular Gland Aplasia Mimicking Nodal Metastasis.

Aplasia of salivary glands is rare and usually involves several major salivary glands. Isolated unilateral submandibular gland aplasia or aplasia accompanied by hypertrophy of contralateral submandibular gland or sublingual glands is a rare entity. The majority of cases are incidentally detected findings in asymptomatic patients; however, imaging findings may mimic mass-like lesions, posing diagnostic challenges in cancer patients. We presented 2 cases, a case with melanoma and an asymptomatic case, who had asymmetric lesion at left submandibular space, demonstrated to represent left submandibular gland accompanied by right submandibular gland aplasia. We aimed to highlight the imaging features for correct identification of these mass-like lesions as normal contralateral salivary gland accompanied by unilateral submandibular gland aplasia.

Maldevelopment of the submandibular gland in a mouse model of apert syndrome.

BACKGROUND: Apert syndrome is characterized by craniosynostosis and bony syndactyly of the hands and feet. The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). Clinical experience suggests increased production of saliva by Apert syndrome patients, but this has not been formally investigated. FGFR2 signaling is known to regulate branching morphogenesis of the submandibular glands (SMGs). With the Apert syndrome mouse model (Ap mouse), we investigated the role of FGFR2 in SMGs and analyzed the SMG pathology of Apert syndrome. RESULTS: Ap mice demonstrated significantly greater SMG and sublingual gland (SMG/SLG complex) mass/body weight and percentage of parenchyma per unit area of the SMG compared with control mice. Furthermore, gene expression of Fgf1, Fgf2, Fgf3, Pdgfra, Pdgfrb, Mmp2, Bmp4, Lama5, Etv5, and Dusp6 was significantly higher in the SMG/SLG complex of Ap mice. FGF3 and BMP4 exhibited altered detection patterns. The numbers of macrophages were significantly greater in SMGs of Ap mice than in controls. Regarding functional evaluations of the salivary glands, no significant differences were observed. CONCLUSIONS: These results suggest that the gain-of-function mutation in FGFR2 in the SMGs of Ap mice enhances branching morphogenesis. Developmental Dynamics 247:1175-1185, 2018. © 2018 Wiley Periodicals, Inc.

Lingual Nerve Entrapment in Fused Submandibular and Sublingual Salivary Glands: A Unique Finding.

Lingual nerve (LN) is one among the 3 branches of posterior division of mandibular nerve. It might get entrapped in the infratemporal fossa by lateral pterygoid muscle, pterygospinous ligament, or lateral pterygoid plate. Its entrapment in the submandibular region has not been reported yet. A unique entrapment of LN in the fused submandibular and sublingual salivary glands in a cadaver was reported. The deep parts of the submandibular and sublingual salivary glands were completely fused with each other. The LN passed through the center of the fused part. Histologically both submandibular and sublingual salivary glands had both mucous and serous acini. Though this entrapment might not cause any functional problems, it might get injured during various surgical procedures of the submandibular region.

Accessory Submandibular Salivary Gland Forming a "Horseshoe" With the Main Submandibular Salivary Gland: A Unique Variation.

Presence of accessory submandibular salivary gland (ASSG) is an extremely rare variation. Knowledge of its relations could be very useful to oral and maxillofacial surgeons, head and neck surgeons, and radiologists. During dissection classes, an ASSG was noted between the mylohyoid and hyoglossus muscles. The main submandibular salivary gland had superficial and deep parts. The deep part was narrow and measured about 5 cm. The lingual nerve passed between the superficial and deep parts. The accessory submandibular gland was situated below and parallel to the deep part of SSG. It also measured 5 cm. The ASSG had its own duct, which joined the duct of main gland. The ASSG and the deep part of the SSG were united at the lateral border of geniohyoid muscle to give a characteristic "horseshoe" appearance. The ASSG overlapped both lingual and hypoglossal nerves.

Chronic sialadenitis due to the stone inside the accessory duct of submandibular gland.

PURPOSE: Sialolithiasis is the most common cause of chronic sialadenitis. In this case report, intraoperative finding of an accessory submandibular duct, obstructed with stone, originating from the same gland nearby the main Warthon's duct, is presented. CASE REPORT: A 22-year-old male patient, suffering from eating-related pain and swelling in his left submandibular region, was diagnosed with left sublandibular gland sialadenitis with radiologically manifested sialolithiasis, and gland excision was advised. Surgery was performed under general anesthesia. When the full anatomical scenery was delineated before excision of the gland, we surprisingly encountered two submandibular ducts originating from ipsilateral gland, one of them was obstructed with stone. After two ducts were ligated, the gland with sialolith was excised. According to histopathologic examination, the duct obstructed with stone was identified as the accessory duct and the other one was the main Wharton's duct. Postoperative days were uneventful; no neurologic complication was observed. CONCLUSIONS: Otolaryngologists should be aware of anatomic variations of the submandibular duct(s) to avoid possible complications, especially intraoperatively, because rutine preoperative radiologic preparation does not include investigation of possible accessory ducts.

A case of imperforate Wharton duct.

Congenital oral masses are rare entities. The establishment of formal fetal diagnostic teams has led to an increased antenatal detection of such lesions. The congenital ranula is a distinct entity from the more familiar variant presenting later in life. The congenital variant may result from an anomaly of the Wharton duct with subsequent dilation of the duct. The variant presenting later in life is the more familiar mucous extravasation phenomenon in the floor of the mouth. Management of the congenital ranula is distinct from its noncongenital counterpart and more conservative and is discussed in the present report.

Dynamic sonography and CT findings of unilateral submandibular gland agenesis associated with herniated hypertrophic sublingual gland.

Congenital agenesis of the submandibular gland is uncommon. We report dynamic sonography and CT findings of the unilateral submandibular gland agenesis associated with herniated hypertrophic sublingual gland tissue through the mylohyoid gap. The dynamic sonography examination applied at rest and during the modified Valsalva maneuver demonstrated hypertrophied sublingual gland prolapsing to the anterior part through the mylohyoid gap. This may be the first reported case describing dynamic sonography findings of this entity. CT confirmed the agenesis of the left submandibular gland and compensatory hypertrophy of the ipsilateral sublingual gland.

The Hippo signaling pathway is required for salivary gland development and its dysregulation is associated with Sjogren's syndrome.

Sjogren's syndrome (SS) is a complex autoimmune disease that primarily affects salivary and lacrimal glands and is associated with high morbidity. Although the prevailing dogma is that immune system pathology drives SS, increasing evidence points to structural defects, including defective E-cadherin adhesion, to be involved in its etiology. We have shown that E-cadherin has pivotal roles in the development of the mouse salivary submandibular gland (SMG) by organizing apical-basal polarity in acinar and ductal progenitors and by signaling survival for differentiating duct cells. Recently, E-cadherin junctions have been shown to interact with effectors of the Hippo signaling pathway, a core pathway regulating the organ size, cell proliferation, and differentiation. We now show that Hippo signaling is required for SMG-branching morphogenesis and is involved in the pathophysiology of SS. During SMG development, a Hippo pathway effector, TAZ, becomes increasingly phosphorylated and associated with E-cadherin and α-catenin, consistent with the activation of Hippo signaling. Inhibition of Lats2, an upstream kinase that promotes TAZ phosphorylation, results in dysmorphogenesis of the SMG and impaired duct formation. SMGs from non-obese diabetic mice, a mouse model for SS, phenocopy the Lats2-inhibited SMGs and exhibit a reduction in E-cadherin junctional components, including TAZ. Importantly, labial specimens from human SS patients display mislocalization of TAZ from junctional regions to the nucleus, coincident with accumulation of extracellular matrix components, fibronectin and connective tissue growth factor, known downstream targets of TAZ. Our studies show that Hippo signaling has a crucial role in SMG-branching morphogenesis and provide evidence that defects in this pathway are associated with SS in humans.

Agenesis of a submandibular gland with compensatory pseudotumoral hypertrophy of the contralateral gland: sonographic findings.

Agenesis of a submandibular gland with compensatory hypertrophy of the contralateral gland is an extremely rare disorder. Most reported cases of unilateral submandibular agenesis have been asymptomatic without any associated facial anomalies. We report a case of submandibular gland hypertrophy mimicking a mass that was detected incidentally. The absence of the contralateral submandibular gland and associated contralateral sublingual gland hypertrophy was confirmed by typical imaging findings.

[Unilateral congenital aplasia of the submandibular gland]. / Submandibüler bezin tek tarafli dogustan aplazisi.

Aplasia of the major salivary glands is very uncommon, whereas isolated aplasia of unilateral submandibular gland is even rarer. In this article, we report a 55-year-old female case in whom unilateral aplasia of the left submandibular gland was detected incidentally by ultrasonography with no other congenital comorbidities in the light of literature data.

Diagnostic imaging for submandibular duct atresia: literature review and case report.

PURPOSE: The basic aim of this review was to retrospectively study the role of imaging, particularly magnetic resonance imaging, in the diagnosis of submandibular duct (SMD) orifice atresia. MATERIALS AND METHODS: From a literature review, data were collected from previously reported cases of imaged SMD atresia and from the present case. RESULTS: Five images, 4 from the literature and 1 magnetic resonance image from our case, were obtained to illustrate the singular appearance of SMD orifice atresia. CONCLUSIONS: To the authors' knowledge, this is the first study, using a review of the literature concerning SMD orifice atresia, to call specific attention to the role imaging plays in illustrating the pathognomonic presence of the uniquely dilated and segmented salivary duct seen in SMD orifice atresia.

Congenital aplasia of the major salivary glands: literature review and case report.

Congenital aplasia of the major salivary glands is rare, and there have been few cases of the condition reported to date. In many cases, absence of the salivary glands is associated with syndromes involving the ectodermal tissues. The xerostomia encountered in affected children is usually associated with increased risk for caries and infections of the soft tissues. The purpose of this paper was to describe the case of a 10-year-old boy with bilateral aplasia of the submandibular and parotid salivary glands and the preventive and restorative treatment rendered. This case study demonstrates the importance of timely diagnosis of this condition in order to prevent the serious oral complications from xerostomia.

Unilateral submandibular gland aplasia with ipsilateral sublingual gland hypertrophy presenting as a neck mass.

The congenital absence of the major salivary glands is a very infrequent disorder, in which several glands are usually involved at the same time. Sometimes this disorder can be associated with other developmental anomalies. The unilateral aplasia of the submandibular gland is an extremely rare finding with only 14 cases reported in the literature. Clinically, this kind of patients may complain of dryness of the mouth, difficulties in chewing and swallowing, severe periodontal disease or multiple caries, but usually they follow an asymptomatic course. Salivary gland aplasia can be diagnosed with a large variety of imaging techniques, which include computer tomography (CT), magnetic resonance imaging (MR), ultrasonography (US), sialography, or scintigraphy. In this paper we report a case of a patient referred to our department with a long term and progressive growing neck mass, who has an unilateral submandibular gland aplasia associated to an ipsilateral hypertrophy of the sublingual gland.

[A case of bilateral aplasia of the submandibular glands associated with a unilateral submandibular hemangioma].

Congenital aplasia of the major salivary gland is a rare condition. We report on a case of bilateral aplasia of the submandibular glands associated with a left submandibular hemangioma. A 62-year-old woman came to our department complaining of a 3-year history of left submandibular swelling. She had no notable family or personal medical history. On physical examination of the head and neck region, a 30 mm, non-tender mass was palpated in the left submandibular area. On imaging examinations including ultrasonography and CT, lack of the right submandibular gland and a left submandibular mass with calcification were demonstrated. Fine needle aspiration cytology resulted in blood elements only. Functioning tissue could not be observed in the bilateral submandibular glands on technetium pertechnetate scintigraphy. We performed a left submandibular tumor extirpation. Intraoperatively, the left submandibular gland and duct were missing. On pathologic examination, the tumor was found to be a hemangioma. The parotid and sublingual glands were recognized bilaterally on postoperative MRI. Her postoperative condition was satisfactory. This condition may be due to the dysfunction of several factors, such as fibroblast growth factors, related to gland differentiation.

Atresia of the submandibular duct orifices: an unusual cause of feeding problems and failure to thrive in an infant.

UNLABELLED: Atresia of the submandibular duct orifice is a rare developmental anomaly, which causes swelling of the duct by accumulation of saliva. The cystic mass in the floor of the mouth can cause feeding problems, which can be treated by surgical opening of the duct. We report the first Swedish case in a male infant, who had severe difficulties to feed because of bilateral swellings of the submandibular ducts caused by orifice atresia. CONCLUSION: This is the first case that has described failure to thrive because of this condition and catch up after treatment. It is important to remember that evaluation of feeding problem in an infant must include inspection of the oral cavity.

Unilateral absence of submandibular gland secondary to stones. Aplasia versus early atrophy.

Major salivary gland absence is a rare disorder. The cause of congenital absence of the salivary glands has not been determined, but it may be associated with ectodermal defects of the first and second branchial arches. Isolated absence of a unilateral submandibular gland is an unusual entity with less than ten cases reported in the literature. The etiopathogenesis of isolated absence of a major salivary gland without other developmental anomalies is still unclear. The formation of a sialolith within the remaining Wharton's duct, associated with isolated aplasia (versus atrophy) of a unilateral submandibular gland has been recently reported. We describe in this work two cases of sialolithiasis within the ipsilateral remaining Wharton's duct in patients with isolated absence of a unilateral submandibular gland. In the cases reported, absence of the submandibular gland may have been the result of the complete acinar atrophy secondary to an early obstruction of Wharton's duct.

Sialolithiasis in a stump of Wharton's duct of an aplastic unilateral submandibular gland.

Congenital absence of the salivary glands is an uncommon disorder. Isolated aplasia of a unilateral submandibular gland is rare and only 6 cases have been reported. The formation of a sialolith within the remaining Wharton's duct, associated with isolated aplasia of a unilateral submandibular gland, has not been reported previously. The authors report two cases of sialolithiasis within the ipsilateral remaining Wharton's duct in patients with isolated aplasia of a unilateral submandibular gland.

[Developmental anomaly of parotid and submandibular glands ducts].

Authors based upon multispiral computer tomography with building up multiplanar 3D-reconstructions disclosed earlier not described developmental anomaly of salivary glands: rudimentary ducts running beyond capsule of parotid and submandibular glands.

Unilateral submandibular gland aplasia masquerading as cancer nodal metastasis.

OBJECTIVE: Five reports have examined unilateral submandibular gland aplasia. The purposes of this report are to demonstrate submandibular gland aplasia leading to contralateral gland hypertrophy in the setting of oral cavity cancer and to discuss the corresponding diagnostic and management challenges. STUDY DESIGN: This study is a case report of a 60-year-old male who presented with pain on the right side of the mobile tongue. METHOD: This report uses literature review. RESULTS: A 60-year-old male presented with pain on the right side of the mobile tongue. Subsequent results of punch biopsy revealed squamous cell carcinoma in situ with foci of microinvasion of the tongue. Head and neck examination revealed no abnormalities. The patient underwent a wide-local excision of the tongue lesion. Postoperative computed tomographic (CT) scan showed an asymmetric mass on the ipsilateral side of the cancer in the region of the submandibular gland. The gland was noted to be abnormally large. A diagnosis of contralateral submandibular gland aplasia was made. The patient is cancer-free at 2 years postlocal excision. Salivary gland aplasia is an extremely rare disorder and is often associated with various congenital syndromes. Unilateral submandibular gland aplasia is even rarer with ours representing the sixth reported case. Aplasia is believed to stem from a regional disturbance in early fetal development. Common symptoms can include dysphagia, dry mouth, decreased taste, and tooth decay. In the presence of a history of oral cavity cancer, unilateral submandibular gland aplasia poses a challenge during postoperative cancer follow-up. CONCLUSIONS: Unilateral submandibular gland aplasia in the setting of oral cavity cancer poses a unique challenge for cancer follow-up. Hypertrophy of the submandibular gland on the other side can masquerade as nodal metastasis. Head and neck examination as well as CT scan can be inconclusive. Regular confirmatory tests such as fine needle aspiration biopsy and positron emission tomography/CT for cancer detection is extremely useful for detecting recurrence.