Avtor/Urednik		Kuralt, Hojka; Fidler, Aleš; Blatnik, Ana; Novaković, Srdjan; Plavc, Gaber
Naslov		Bilateral parotid glands aplasia
Tip		članek
Vol. in št.		, št. Vol. 38
Leto izdaje		2022
Obseg		str. 423‐429
ISSN		0911-6028 - Oral radiology
Jezik		eng
Abstrakt		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 identifed. 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 identifed 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 efect 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.
Proste vsebinske oznake		congenital malformation parotid gland aplasia salivary glands xerostomia