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

Abstract

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.

Bilateral Submandibular Gland Aplasia: An Unusual Cause of Sublingual Swelling—The Role of Imaging in Patient Management

“…Incidental absence of the right submandibular gland in a 35-year-old woman, with a "mass" in the right sublingual space, has been reported in previous literature. 10,11 There were no associated calculi or other lesions, and the location of mass was above mylohyoid muscle sling. Their hypertrophy of the sublingual gland was seen in this instance.…”

Aplasia of the Major and Minor Salivary Glands: Report of a Rare Case

“…Salivary gland aplasia was first described in 1885 by Gruber [8]. Since then, only a few cases of aplasia, incomplete aplasia or hypoplasia have been reported in the literature [3,4,[9][10][11][12][13][14][15][16][17][18][19]. Pham Dang et al [16] in 2010 reported 35 cases of agenesis of the major salivary glands while in a more recent literature review by Kuralt et al [4], 148 radiologically confirmed cases of salivary gland aplasia were found; the median age of patients at the time of diagnosis was 21 years old and the majority were females (52.1%), as in our case who concerned a 23-year-old woman.…”