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Polycystic (Dysgenetic) Parotid Disease

Submitted by zfleishhacker on Thu, 05/05/2022 - 14:47

See also: Salivary Gland Swelling - Classification by Disease Processes Affecting the Glands and Sclerosing Polycystic Adenosis of the Parotid

Zach Fleishhacker BS with assistance from Henry Hoffman MD 

Initially compiled 05-05-2022 by Fleishhacker and Hoffman with future adaptations per additional contributors 

Definitions

Dysgenetic/Dysgenesis: Referring to abnormal development of an embryonic structure, in this case the parotid duct system.

Polycystic/Cystic: An abnormal epithelium-lined closed sac with a distinct membrane containing fluid, air, pus, or other liquid or semi-solid material. Polycystic refers to the occurence of two or more cyst 

Polycystic Parotid Disease, or Dysgenetic Polycystic Disease of the Parotid:

  1. Rare benign cystic disorder of the parotid salivary glands characterized by Seifert et al in 1981 (Seifert 1981), with only a few dozen cases reported in the literature. A potential first case of the disorder was described in 1961 by Mihalyka (Mihalyka 1961). Histology of this disease suggests similarity with other polycystic disorders affecting the pancreas and kidneys, though no direct connection has been established (Ortiz-Hidalgo et al 1995).

  2. Clinical Presentation (Batsakis et al 1988, Ficarra et al 1996, Eley et al 2011)

    • Fluctuating, non-tender parotid gland swelling, usually bilateral 

    • May appear in childhood or adulthood

    • No effect on salivary gland function

    • Often asymptomatic with incidental discovery on imaging for other disorders

Demographics (Eley 2011)

Often first appears in childhood or young adulthood 

Majority of cases have been reported in females

Case reports have suggested the condition to be familial, with inheritance in a sex-linked fashion (Smyth et al 1993)

Pathophysiology

Considered by some to be a developmental abnormality and attributed to abnormalites in the intercalated duct system of the gland (Ficarra 1996)

Proposed that terminal salivary duct branching and canalization are disturbed during the second stage of salivary gland embryologic development between gestational weeks 22-34, leading to eventual cyst formation (Ficarra 1996)

Single case report of worsening of swelling with pregnancy and subsequent regression postpartum suggesting possible hormonal involvement (Brown et al 1995)

Histopathology (Layfield et al 2002, Ficarra 1996, Brown 1995)

Characteristic histology:

Normal salivary gland architecture interrupted and/or replaced by dilated cystic ducts of varying sizes leading to a "honeycomb" appearance

Cysts lined by 1-3 epithelial layers of flattened embryonal cuboidal and/or columnar cells lacking a clear basement membrane

Eosinophilic secretions within the lumen of cysts

Minimal acinar tissue present in affected lobules

Enlarged and hyperplastic salivary ducts

Replacement of normal salivary parenchyma with loose myxomatous connective tissue, fibrosis absent

Diagnosis

Rare disorder with no universally accepted diagnostic criteria

Diagnosis generally made using clinical criteria and imaging before confirmation with histological analysis (Kumar et al 2013, Eley 2011)

Clinical criteria suggesting a diagnosis of polycystic parotid disease (Kumar et al 2013, Eley 2011): 

Otherwise asymptomatic, progressive or fluctuating bilateral parotid gland swelling

Young adult /  Female

Imaging

MRI and US are most useful for parotid gland imaging (Mihalyka 1962, Mandel et al 2002)

Diffuse hyperintensity of the lesions on long repetition time (TR) T1 MRI has been reported as a distinctive feature of PPD (Brown 1995)

Shows multiple parotid cysts of varying sizes and shapes in bilateral glands (Brown 1995)

Definitive diagnosis requires histologic examination of the cysts consistent with the features mentioned above, this occurs via biopsy or after surgical removal of the cysts via partial or total parotidectomy (Eley 2011)

Differential Diagnosis

Otherwise asymptomatic bilateral swelling and cystic formation of the parotid glands has a limited differential

Systemic diseases that may present with bilateral parotid swelling such as lymphomas, Sjogren's Syndrome, and Sarcoidosis are likely to also present with systemic manifestations (Brown 1995)

Both Salivary Duct Cysts and Sclerosing Polycystic Adenosis can present with polycystic parotid gland swelling and should be considered (Kumar 2013)

SDCs are often associated with either cystadenoma or low-grade mucoepidermoid carcinoma of the tissue leading to plugging and duct obstruction and resulting in cyst formation. Other causes include calculi, mucus plugs, trauma, or post-inflammatory scarring (Siefert et al 1996, Ogawa et al 2004).

These present most often in the 4th or 5th decade of life

Equal distribution between males and females

Higher frequency of unilateral disease

Cysts lined by normal duct epithelium 

SPA is sclerotic and inflammatory lesion(s)/nodules of the parotid gland with features similar to that of fibrocystic disease of the breast (Espinosa et al 2017)

This disease presents as multiple firm swellings embedded in the salivary gland, occasionally bilaterally

Affects middle aged females

Considered a benign tumor that appears as cystic on imaging

Differentiating histologic features include apocrine differentiation, inflammatory infiltration, and contained cellular atypia with scattered staining by immunohistochemistry

Clinical Approach

Patients initially diagnosed or suspected based on presentation and imaging (may be incidental)

Assessment of impact must be completed

Factors to examine include:

Appearance

Function e.g. interference with chewing or facial nerve weakness

Current guidelines on other benign lesions of the parotid (such as Warthin's tumor) support serial observation as an option for management (Geiger et al 2021, Thielker et al 2018)

This observation approach is accomplished with physical examination and in-clinic imaging with US often supplemented with ultrasound-guided needle biopsy

Obsevation may be a reasonable approach if the patient is not experiencing cosmetic or functional impact. 

Surgical resection of cystic tissue (parotidectomy) may be chosen 

Superficial, partial, or total parotidectomy may be offered depending on the extent of gland tissue affected

"In general, lobectomy or superficial parotidectomy is the treatment of choice as the lesion is benign in nature" (Kumar 2013)

Alternatively, total parotidectemy has been suggested as preferred due to possible presence of cysts in the deep lobe (Smyth 1993) though should be weighed against potential complications including expected altered facial contour

Informed consent regarding parotidectomy includes disclosure of the risks of general anesthesia, facial nerve injury, altering the facial contour, Frey's syndrome, numbness to ear/face

Tissue should be sent for pathological analysis 

Conclusion

Polycystic (Dysgenetic) Parotid Disease is a rare, likely inheritable, benign disorder disproportionally affecting younger females with distinctive histologic features resulting in bilateral, multicystic enlargement of the parotid glands

References

MIHALYKA EE. Congenital bilateral polycystic parotid glands. JAMA. 1962 Aug 18;181:634-5. doi: 10.1001/jama.1962.03050330064019. PMID: 14473659.

Ortiz-Hidalgo C, Cervantes J, de la Vega G. Unilateral polycystic (dysgenetic) disease of the parotid gland. South Med J. 1995 Nov;88(11):1173-5. doi: 10.1097/00007611-199511000-00022. PMID: 7481997.

Kumar KA, Mahadesh J, Setty S. Dysgenetic polycystic disease of the parotid gland: Report of a case and review of the literature. J Oral Maxillofac Pathol. 2013;17(2):248-252. doi:10.4103/0973-029X.119744

Eley KA, Golding SJ, Chapel H, Watt-Smith SR. Polycystic parotid disease in a male child: report of a case and review of the literature. J Oral Maxillofac Surg. 2011 May;69(5):1375-9. doi: 10.1016/j.joms.2010.05.018. Epub 2011 Jan 21. PMID: 21256652.

Smyth AG, Ward-Booth RP, High AS. Polycystic disease of the parotid glands: two familial cases. Br J Oral Maxillofac Surg. 1993 Feb;31(1):38-40. doi: 10.1016/0266-4356(93)90096-f. PMID: 7679283.

Batsakis JG, Bruner JM, Luna MA. Polycystic (dysgenetic) disease of the parotid glands. Arch Otolaryngol Head Neck Surg. 1988 Oct;114(10):1146-8. doi: 10.1001/archotol.1988.01860220080029. PMID: 3415824.

Ficarra G, Sapp JP, Christensen RE, Polyakov V. Dysgenetic polycystic disease of the parotid gland: report of case. J Oral Maxillofac Surg. 1996 Oct;54(10):1246-9. doi: 10.1016/s0278-2391(96)90362-6. PMID: 8859246.

Brown E, August M, Pilch BZ, Weber A. Polycystic disease of the parotid glands. AJNR Am J Neuroradiol. 1995 May;16(5):1128-31. PMID: 7639138; PMCID: PMC8337796.

Seifert G, Thomsen S, Donath K. Bilateral dysgenetic polycystic parotid glands. Morphological analysis and differential diagnosis of a rare disease of the salivary glands. Virchows Arch A Pathol Anat Histol. 1981;390(3):273-88. doi: 10.1007/BF00496559. PMID: 7281479.

Layfield LJ, Gopez EV. Histologic and fine-needle aspiration cytologic features of polycystic disease of the parotid glands: case report and review of the literature. Diagn Cytopathol. 2002 May;26(5):324-8. doi: 10.1002/dc.10108. PMID: 11992377.

Mandel L, Surattanont F. Bilateral parotid swelling: a review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002 Mar;93(3):221-37. doi: 10.1067/moe.2002.121163. PMID: 11925529.

Espinosa CA, Rua L, Torres HE, Fernández Del Valle Á, Fernandes RP, Devicente JC. Sclerosing Polycystic Adenosis of the Parotid Gland: A Systematic Review and Report of 2 New Cases. J Oral Maxillofac Surg. 2017 May;75(5):984-993. doi: 10.1016/j.joms.2016.10.031. Epub 2016 Nov 2. PMID: 27888671.

Seifert G. Mucoepidermoid carcinoma in a salivary duct cyst of the parotid gland. Contribution to the development of tumours in salivary gland cysts. Pathol Res Pract. 1996 Dec;192(12):1211-7. doi: 10.1016/S0344-0338(96)80153-1. PMID: 9182291.

Ogawa Y, Kishino M, Nakazawa M, Iwai S, Ohta Y, Ishida T, Yura Y, Ijuhin N. Adenoid cystic carcinoma associated with salivary duct cyst in the sublingual gland. J Oral Pathol Med. 2004 May;33(5):311-3. doi: 10.1111/j.0904-2512.2004.00161.x. PMID: 15078493.

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Thielker J, Grosheva M, Ihrler S, Wittig A, Guntinas-Lichius O. Contemporary Management of Benign and Malignant Parotid Tumors. Front Surg. 2018;5:39. Published 2018 May 11. doi:10.3389/fsurg.2018.00039