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Aplasia of the parotid gland

MedGen UID:
893144
•Concept ID:
C4024215
•
Anatomical Abnormality
Synonyms: Abnormally small parotid gland; Absence of the parotid gland; Hypoplasia of parotid gland; Underdevelopment of parotid gland
 
HPO: HP:0009740

Definition

Absence of the parotid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the parotid gland

Conditions with this feature

LADD syndrome 1
MedGen UID:
1824096
•Concept ID:
C5774323
•
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.
See: Condition Record
LADD syndrome 1

Professional guidelines

PubMed

Salivary duct stenosis: diagnosis and treatment.
Koch M, Iro H
Acta Otorhinolaryngol Ital 2017 Apr;37(2):132-141. doi: 10.14639/0392-100X-1603. PMID: 28516976Free PMC Article
Major Salivary Gland Ultrasonography in the Diagnosis of Sjögren's Syndrome: A Place in the Diagnostic Criteria?
Jonsson MV, Baldini C
Rheum Dis Clin North Am 2016 Aug;42(3):501-17. doi: 10.1016/j.rdc.2016.03.008. PMID: 27431351
Management of venous malformations.
Richter GT, Braswell L
Facial Plast Surg 2012 Dec;28(6):603-10. Epub 2012 Nov 27 doi: 10.1055/s-0032-1329935. PMID: 23188688

Recent clinical studies

Etiology

Vascular Malformations of the Head and Neck in Children.
Plettendorff L, Werner JA, Wiegand S
In Vivo 2023 Jan-Feb;37(1):366-370. doi: 10.21873/invivo.13087. PMID: 36593008Free PMC Article
Sialographic Analysis of Radioiodine-Associated Chronic Sialadenitis.
Thorpe RK, Foggia MJ, Marcus KS, Policeni B, Maley JE, Hoffman HT
Laryngoscope 2021 May;131(5):E1450-E1456. Epub 2020 Nov 17 doi: 10.1002/lary.29279. PMID: 33200832Free PMC Article
First-Trimester Nonvisualization of the Parotid Gland and Aneuploidy in Fetuses With Increased Nuchal Translucency: A Prospective Cohort Study.
Perlman S, Sukenik-Helevy R, Odeh M, Keren Gilat E, Gilboa Y
J Ultrasound Med 2021 Jan;40(1):41-47. Epub 2020 Jun 17 doi: 10.1002/jum.15371. PMID: 32946138
Evidence-based management of incidental focal uptake of fluorodeoxyglucose on PET-CT.
Pencharz D, Nathan M, Wagner TL
Br J Radiol 2018 Apr;91(1084):20170774. Epub 2018 Jan 31 doi: 10.1259/bjr.20170774. PMID: 29243502Free PMC Article
The Significance of Matrix Metalloproteinases in Oral Diseases.
Maciejczyk M, Pietrzykowska A, Zalewska A, Knaś M, Daniszewska I
Adv Clin Exp Med 2016 Mar-Apr;25(2):383-90. doi: 10.17219/acem/30428. PMID: 27627574

Diagnosis

Vascular Malformations of the Head and Neck in Children.
Plettendorff L, Werner JA, Wiegand S
In Vivo 2023 Jan-Feb;37(1):366-370. doi: 10.21873/invivo.13087. PMID: 36593008Free PMC Article
Imaging Evaluation of Pediatric Parotid Gland Abnormalities.
Inarejos Clemente EJ, Navallas M, Tolend M, Suñol Capella M, Rubio-Palau J, Albert Cazalla A, Rebollo Polo M
Radiographics 2018 Sep-Oct;38(5):1552-1575. Epub 2018 Aug 10 doi: 10.1148/rg.2018170011. PMID: 30096049
Salivary duct stenosis: diagnosis and treatment.
Koch M, Iro H
Acta Otorhinolaryngol Ital 2017 Apr;37(2):132-141. doi: 10.14639/0392-100X-1603. PMID: 28516976Free PMC Article
Management of venous malformations.
Richter GT, Braswell L
Facial Plast Surg 2012 Dec;28(6):603-10. Epub 2012 Nov 27 doi: 10.1055/s-0032-1329935. PMID: 23188688
Salivary glands.
Silvers AR, Som PM
Radiol Clin North Am 1998 Sep;36(5):941-66, vi. doi: 10.1016/s0033-8389(05)70070-1. PMID: 9747195

Therapy

Effect of Capivasertib in Patients With an AKT1 E17K-Mutated Tumor: NCI-MATCH Subprotocol EAY131-Y Nonrandomized Trial.
Kalinsky K, Hong F, McCourt CK, Sachdev JC, Mitchell EP, Zwiebel JA, Doyle LA, McShane LM, Li S, Gray RJ, Rubinstein LV, Patton D, Williams PM, Hamilton SR, Conley BA, O'Dwyer PJ, Harris LN, Arteaga CL, Chen AP, Flaherty KT
JAMA Oncol 2021 Feb 1;7(2):271-278. doi: 10.1001/jamaoncol.2020.6741. PMID: 33377972Free PMC Article
Sialographic Analysis of Radioiodine-Associated Chronic Sialadenitis.
Thorpe RK, Foggia MJ, Marcus KS, Policeni B, Maley JE, Hoffman HT
Laryngoscope 2021 May;131(5):E1450-E1456. Epub 2020 Nov 17 doi: 10.1002/lary.29279. PMID: 33200832Free PMC Article
The Significance of Matrix Metalloproteinases in Oral Diseases.
Maciejczyk M, Pietrzykowska A, Zalewska A, Knaś M, Daniszewska I
Adv Clin Exp Med 2016 Mar-Apr;25(2):383-90. doi: 10.17219/acem/30428. PMID: 27627574
Management of venous malformations.
Richter GT, Braswell L
Facial Plast Surg 2012 Dec;28(6):603-10. Epub 2012 Nov 27 doi: 10.1055/s-0032-1329935. PMID: 23188688
Glomeruloid hemangioma.
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219

Prognosis

FDG-PET/CT discriminates between patients with and without lymphomas in primary Sjögren's syndrome.
van Ginkel MS, Arends S, van der Vegt B, Nijland M, Spijkervet FKL, Vissink A, Kroese FGM, Glaudemans AWJM, Bootsma H
Rheumatology (Oxford) 2023 Oct 3;62(10):3323-3331. doi: 10.1093/rheumatology/kead071. PMID: 36759907Free PMC Article
Bilateral parotid glands aplasia: a case report and literature review.
Kuralt H, Fidler A, Blatnik A, Novaković S, Plavc G
Oral Radiol 2022 Jul;38(3):423-429. Epub 2022 Jan 25 doi: 10.1007/s11282-022-00589-z. PMID: 35076829
First-Trimester Nonvisualization of the Parotid Gland and Aneuploidy in Fetuses With Increased Nuchal Translucency: A Prospective Cohort Study.
Perlman S, Sukenik-Helevy R, Odeh M, Keren Gilat E, Gilboa Y
J Ultrasound Med 2021 Jan;40(1):41-47. Epub 2020 Jun 17 doi: 10.1002/jum.15371. PMID: 32946138
Acinic Cell Carcinoma of the Parotid Gland in Children and Adolescents.
Ash S, Yaniv I, Feinmesser R, Konen O, Feinmesser M
J Pediatr Hematol Oncol 2018 Mar;40(2):99-103. doi: 10.1097/MPH.0000000000000994. PMID: 29240035
Glomeruloid hemangioma.
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219

Clinical prediction guides

FDG-PET/CT discriminates between patients with and without lymphomas in primary Sjögren's syndrome.
van Ginkel MS, Arends S, van der Vegt B, Nijland M, Spijkervet FKL, Vissink A, Kroese FGM, Glaudemans AWJM, Bootsma H
Rheumatology (Oxford) 2023 Oct 3;62(10):3323-3331. doi: 10.1093/rheumatology/kead071. PMID: 36759907Free PMC Article
HCV Infection Alters Salivary Gland Histology and Saliva Composition.
Maldonado JO, Beach ME, Wang Y, Perez P, Yin H, Pelayo E, Fowler S, Alevizos I, Grisius M, Baer AN, Walitt B, De Giorgi V, Alter HJ, Warner BM, Chiorini JA
J Dent Res 2022 May;101(5):534-541. Epub 2022 Jan 20 doi: 10.1177/00220345211049395. PMID: 35045743Free PMC Article
Prevalence and outcomes of incidental imaging findings: umbrella review.
O'Sullivan JW, Muntinga T, Grigg S, Ioannidis JPA
BMJ 2018 Jun 18;361:k2387. doi: 10.1136/bmj.k2387. PMID: 29914908Free PMC Article
Evidence-based management of incidental focal uptake of fluorodeoxyglucose on PET-CT.
Pencharz D, Nathan M, Wagner TL
Br J Radiol 2018 Apr;91(1084):20170774. Epub 2018 Jan 31 doi: 10.1259/bjr.20170774. PMID: 29243502Free PMC Article
Major Salivary Gland Ultrasonography in the Diagnosis of Sjögren's Syndrome: A Place in the Diagnostic Criteria?
Jonsson MV, Baldini C
Rheum Dis Clin North Am 2016 Aug;42(3):501-17. doi: 10.1016/j.rdc.2016.03.008. PMID: 27431351

Recent systematic reviews

Salivary and Dental Complications in Childhood Cancer Survivors Treated With Radiation Therapy to the Head and Neck: A PENTEC Comprehensive Review.
Milgrom SA, van Luijk P, Pino R, Ronckers CM, Kremer LC, Gidley PW, Grosshans DR, Laskar S, Okcu MF, Constine LS, Paulino AC
Int J Radiat Oncol Biol Phys 2024 Jun 1;119(2):467-481. Epub 2021 May 29 doi: 10.1016/j.ijrobp.2021.04.023. PMID: 34074567
Genotoxic and cytotoxic effects of mobile phone use on the oral epithelium: a systematic review with meta-analysis.
Dos Santos MAL, de Santana FS, Soares AF, de Sousa SF, Menezes LS, Takeshita WM
Gen Dent 2020 Nov-Dec;68(6):70-74. PMID: 33136050

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