Complete agenesis of major salivary glands

Berta, Eszter; Bettega, G.; Jouk, Pierre‐Simon; Billy, Gopal; Nugues, F.; Morand, B.

doi:10.1016/j.ijporl.2013.07.025

Cited by 14 publications

(29 citation statements)

References 14 publications

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“…A few cases of aplasia of all major salivary glands has been reported in the literature, nevertheless incomplete aplasia or hypoplasia is described (1,2,4-6,12,13). Parotid is more usual affected but submandibular gland agenesis seems to be not common (14).…”

Section: Discussionmentioning

confidence: 99%

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Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature

et al. 2018

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Aplasia of the lacrimal and the major salivary glands (ALSG) is a rare disorder with scarce cases described in the recent literature. The pattern of genetic inheritance is autosomal dominant with variable expressivity. A 40 years male patient was referred to the Oral and Maxillofacial Service at the Hospital Universitario de A Coruña diagnosed with complete agenesis of all salivary glands. Our case it is the first of ALSG syndrome in the Spanish literature. Imaging tests are necessary to confirm the lack of formation of salivary glands and alteration of lacrimal system. A mutation of FGF10 has been proposed as the responsible of the syndrome. The management of the lacrimal alteration depends of the clinical findings. Clinical suspicion remains the principal tool to diagnose the syndrome. Key words:ALSG, salivary glands aplasia.

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Section: Discussionmentioning

confidence: 99%

“…A mutation of FGF10 has been proposed as the responsible of the syndrome (1,8-11), but its low availability difficult the genetic confirmation (1,13,17).…”

Section: Discussionmentioning

confidence: 99%

Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature

et al. 2018

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“…The mutation of FGF-10 or FGFR2b seems to decrease the survival of progenitor cells in a murine model, leading to aplasia/hypoplasia of major SGs (Berta et al, 2013). Although FGF-10 mutation has been reported in some patients, the diagnosis is usually based on clinico-radiological findings.…”

Section: Glandular Parenchyma Anomaliesmentioning

confidence: 99%

“…The diagnostic genetic investigations are recommended only if they have a substantial impact on patient management. The mechanisms related to sporadic cases can be either a de novo mutation gene, especially FGF-10, or a multifactorial cause associated with genetic and/or environmental factors (e.g., infections during pregnancy) (Berta et al, 2013).…”

Section: Glandular Parenchyma Anomaliesmentioning

confidence: 99%

“…Salivary glands (SG) arise from ectodermal tissue during intrauterine life following a complex and well-timed sequence of epithelial-mesenchymal interactions (McDonald et al, 1986; Pham Dang et al, 2010). Parotid glands are the first to develop from the 6th week of intrauterine life, followed by submandibular (7th week), sublingual (8th week), and the other minor SGs (9–12th weeks) (Zhang et al, 2010; Berta et al, 2013; Chadi et al, 2017). Whereas parotid and minor SGs are certainly ectodermal in origin, submandibular, and sublingual glands arise from the mouth floor in the junctional regions between ectoderm and endoderm (Amin and Bailey, 2001; Antoniades et al, 2006; Higley et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

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Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands

et al. 2019

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Salivary glands (SG) arise from ectodermal tissue between 6 and 12th weeks of intrauterine life through finely regulated epithelial-mesenchymal interactions. For this reason, different types of structural congenital anomalies, ranging from asymptomatic anatomical variants to alterations associated with syndromic conditions, have been described. Notable glandular parenchyma anomalies are the SG aplasia and the ectopic SG tissue. Major SG aplasia is a developmental anomaly, leading to variable degrees of xerostomia, and oral dryness. Ectopic SG tissue can occur as accessory gland tissue, salivary tissue associated with branchial cleft anomalies, or true heterotopic SG tissue. Among salivary ducts anomalies, congenital atresia is a rare developmental anomaly due to duct canalization failure in oral cavity, lead to salivary retention posterior to the imperforate orifice. Accessory ducts originate from the invagination of the developing duct in two places or from the premature ventral branching of the main duct. Heterotopic ducts may arise from glandular bud positioned in an anomalous site lateral to the stomodeum or from the failure of the intraoral groove development, hindering their proximal canalization. These anomalies require multidisciplinary approach to diagnosis and treatment. While ectopic or accessory SG tissue/ducts often do not require any treatment, patients with SG aplasia could benefit from strategies for restoring SG function. This article attempts to review the literature on SG parenchyma and ducts anomalies in head and neck region providing clinicians with a comprehensive range of clinical phenotypes and possible future applications of bioengineered therapies for next-generation of regenerative medicine.

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Surgical Anatomy, Embryology, and Physiology of the Salivary Glands

Langdon¹

2021

Salivary Gland Pathology

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Complete agenesis of major salivary glands

Cited by 14 publications

References 14 publications

Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature

Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature

Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands

Surgical Anatomy, Embryology, and Physiology of the Salivary Glands

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