Hojka Kuralt1, Aleš Fidler1,2, Ana Blatnik3, Srdjan Novaković4, Gaber Plavc5,6. 1. Department of Restorative Dentistry and Endodontics, University Medical Centre Ljubljana, Ljubljana, Slovenia. 2. Department of Endodontics and Operative Dentistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. 3. Cancer Genetics Clinic, Institute of Oncology Ljubljana, Ljubljana, Slovenia. 4. Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia. 5. Department of Radiation Oncology, Institute of Oncology Ljubljana, Zaloška cesta 2, 1000, Ljubljana, Slovenia. gplavc@onko-i.si. 6. Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. gplavc@onko-i.si.
Abstract
OBJECTIVES: Bilateral parotid gland aplasia is a rare congenital anomaly that almost consistently leads to xerostomia and caries. It is often associated with other congenital craniofacial abnormalities. The objective was to describe a case with asymptomatic bilateral parotid gland aplasia and to review previously reported cases. METHODS: Panoramic radiograph, computed tomography and magnetic resonance imaging were obtained and an in-depth assessment of patient's dental status and sequence analysis of FGF10, FGFR2 and FGFR3 genes were performed. Previous reports of bilateral parotid gland aplasia were assessed. RESULTS: In a 64-year-old woman with extensive basal cell carcinoma of nasal skin an incidental bilateral parotid gland aplasia was noted during radiotherapy treatment planning. Dental status revealed surprisingly numerous (n = 15) teeth without active caries lesions. No other craniofacial abnormalities were identified. To rule out most probable syndromes associated with parotid gland aplasia, sequence analysis of FGF10, FGFR2 and FGFR3 genes was performed showing no pathogenic variants. With a literature review, we identified 148 cases of salivary gland aplasia in which median age at diagnosis was 21 years and one third were asymptomatic. In only 10 of these cases, the patients presented with bilateral aplasia of parotid glands without other craniofacial abnormalities. CONCLUSIONS: Absence of salivary glands can have a debilitating effect on oral health and is often accompanied by other craniofacial abnormalities. However, relatively frequent asymptomatic course suggests that this rare malformation is probably underdiagnosed. Therefore, we propose systematic reporting of salivary gland aplasia to assess its true prevalence in general population.
OBJECTIVES: Bilateral parotid gland aplasia is a rare congenital anomaly that almost consistently leads to xerostomia and caries. It is often associated with other congenital craniofacial abnormalities. The objective was to describe a case with asymptomatic bilateral parotid gland aplasia and to review previously reported cases. METHODS: Panoramic radiograph, computed tomography and magnetic resonance imaging were obtained and an in-depth assessment of patient's dental status and sequence analysis of FGF10, FGFR2 and FGFR3 genes were performed. Previous reports of bilateral parotid gland aplasia were assessed. RESULTS: In a 64-year-old woman with extensive basal cell carcinoma of nasal skin an incidental bilateral parotid gland aplasia was noted during radiotherapy treatment planning. Dental status revealed surprisingly numerous (n = 15) teeth without active caries lesions. No other craniofacial abnormalities were identified. To rule out most probable syndromes associated with parotid gland aplasia, sequence analysis of FGF10, FGFR2 and FGFR3 genes was performed showing no pathogenic variants. With a literature review, we identified 148 cases of salivary gland aplasia in which median age at diagnosis was 21 years and one third were asymptomatic. In only 10 of these cases, the patients presented with bilateral aplasia of parotid glands without other craniofacial abnormalities. CONCLUSIONS: Absence of salivary glands can have a debilitating effect on oral health and is often accompanied by other craniofacial abnormalities. However, relatively frequent asymptomatic course suggests that this rare malformation is probably underdiagnosed. Therefore, we propose systematic reporting of salivary gland aplasia to assess its true prevalence in general population.
Authors: M J Hajianpour; Hannah Bombei; Scott M Lieberman; Rachael Revell; Rachana Krishna; Robert Gregorsok; Simon Kao; Jeff M Milunsky Journal: J Am Dent Assoc Date: 2016-12-30 Impact factor: 3.634
Authors: Lucrezia Togni; Marco Mascitti; Andrea Santarelli; Maria Contaldo; Antonio Romano; Rosario Serpico; Corrado Rubini Journal: Front Physiol Date: 2019-07-03 Impact factor: 4.566