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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 34  |  Issue : 4  |  Page : 491-494

Syndromic multiple cystic lesions: A rare case report


Department of Oral Medicine and Radiology, Vasantdada Patil Dental College and Hospital, Kavalapur, Sangli, Maharashtra, India

Date of Submission28-Jun-2022
Date of Decision27-Aug-2022
Date of Acceptance31-Oct-2022
Date of Web Publication09-Dec-2022

Correspondence Address:
Rahila K Patwegar
117/1A, Plot No: 7, “Patwegar House”, Near New Pride Hotel, Venkatesh Nagar, Sangli - 416 416, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_186_22

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   Abstract 


Odontogenic cystic lesions of the jaw usually present as a single lesion and rarely occur as multiple cysts occupying more than one quadrant of the jaw. Multiple cysts are usually a part of a syndrome. Cystic lesions of the jaw are rarely symptomatic in pediatric age and, thus, very difficult to identify at an early age. Here, we present a case of multiple cysts in a pediatric patient and a review.

Keywords: Gorlin–Goltz syndrome, multiple odontogenic keratocytes, nevoid basal cell carcinoma syndrome


How to cite this article:
Patwegar RK, Paranjpe AG, Byakodi RS, Kshar AB. Syndromic multiple cystic lesions: A rare case report. J Indian Acad Oral Med Radiol 2022;34:491-4

How to cite this URL:
Patwegar RK, Paranjpe AG, Byakodi RS, Kshar AB. Syndromic multiple cystic lesions: A rare case report. J Indian Acad Oral Med Radiol [serial online] 2022 [cited 2023 Feb 3];34:491-4. Available from: http://www.jiaomr.in/text.asp?2022/34/4/491/363020




   Introduction Top


Odontogenic and non-odontogenic cysts of the jaw usually occur as solitary lesions, although the presence of multiple lesions in a single patient has been reported. The presentation of multiple jaw cysts is more common when they occur as a component of craniofacial syndromes. Gorlin–Goltz syndrome (GGS) is the most recognized syndrome associated with multiple cysts. Less commonly recognized are oral-facial-digital syndrome, Noonan syndrome, Ehlers-Danlos syndrome, and Simpson-Golabi-Behmel syndrome. Multiple cysts not associated with any syndrome are rare.[1]


   Case Report Top


A male patient aged 12 years presented with slow-growing, painless swelling involving the right mandibular body region. The patient was aware of the swelling for 6 months. His father had a similar history of swelling.

On extraoral examination, a solitary well-defined swelling was seen on the lower right side of the face, extending superio-inferiorly from the lower half of the face to the lower border of the mandible and anterio-posteriorly from the corner of the mouth to midway of the mandible on the right side, measuring approximately 3 × 2 cm in size. On palpation, the swelling was non-tender, hard in consistency, and fixed to underlying structures [Figure 1]. On intraoral examination, a well-defined solitary swelling was seen in the right buccal vestibule, extending from 43 to 46 region, measuring approximately 3 × 2 cm in size, and obliterated the buccal vestibule. Over-retained-85 with pit caries and partially erupted-47 was noted. On palpation, the swelling was non-tender, hard in consistency, fixed to the underlying structure, and showed buccal cortical expansion, which appeared to be smooth within the confinements of the mandible [Figure 2].
Figure 1: Extraoral photograph

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Figure 2: Intraoral photograph

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Based on the history and clinical examination, a provisional diagnosis of a dentigerous cyst in the right mandibular body region was considered. An orthopantomogram (OPG) was taken to assess the extent of the lesion. It revealed four cystic lesions, three in the mandible, and one in the maxilla [Figure 3].
Figure 3: Orthopantomogram shows cystic lesions

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Based on the findings, the differential diagnosis of odontogenic keratocyst (OKC) associated with GGS, Noonan syndrome, and non-syndromic multiple cystic lesions was considered. Further radiographic investigations and a thorough general examination were done to rule out the presence of any syndrome.

The lateral-cephalogram showed bridging of Sella-turcica. Chest-radiograph showed bifid 2nd, 3rd, and 4th ribs on both sides [Figure 4]a and [Figure 4]b.
Figure 4: (a) Lateral-cephalogram shows bridging of Sella-turcica, (b) Chest-radiograph shows bifid-ribs

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Cone beam computed tomography (CBCT) showed a well-defined, corticated, unilocular, radiolucent cystic lesion involving 43-46 with the displacement of impacted-45 towards the lower border of the mandible and measuring approximately 23.2 mm × 20.6 mm × 21.2 mm in size. Another cystic lesion was seen from the distal root of 47 extending into the ramus of the mandible, measuring approximately 11.5 mm × 21.6 mm × 22.8 mm in size. Similarly, on the left side, a cystic lesion was observed with impacted-37, located in the center of the cystic space and measuring approximately 18.6 mm × 21.4 mm × 29.4 mm in size. Displacement of the inferior alveolar nerve canal was apparent towards the lower border of the mandible on both sides. There was predominant buccal and lingual cortical expansion. A similar cystic lesion was observed in the left maxilla with impacted-28, measuring approximately 13 mm × 18 mm × 11.4 mm in size and near the posterior wall of the left maxillary sinus [Figure 5]a, [Figure 5]b, [Figure 5]c.
Figure 5: (a) Reformatted-OPG, (b) Sagittal-view, (c) Axial-view showing buccal and lingual cortical expansion

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General examination revealed palmar pits on both hands, Sprengel-deformity (congenital disorder in which the shoulder blade-scapula is too high on one side than the other), biparietal-bossing, and mild hypertelorism [Figure 6]a and [Figure 6]b.
Figure 6: (a) Photograph shows Sprengel-deformity, (b) Photograph showing palmar pits

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Based on clinical and radiographic findings, GGS was suspected. Incisional biopsy was done, and histopathological reports came out as OKC [Figure 7].
Figure 7: Histopathological picture showing features of the OKC

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A hematological and serological examination was performed and physician fitness was taken before surgery. The cyst enucleation was done on both sides under local anesthesia via intraoral approach and peripheral-ostectomy followed by chemical cauterization using Carnoy's solution [Figure 8]a and [Figure 8]b. The excised specimens were sent for histopathological examination, and reports revealed OKC, consistent with the pre-operative biopsy. A final diagnosis of OKC in a patient with GGS was contemplated. The patient was kept under follow-up, and 3-month post-operative OPG was taken, which showed healing of the surgical sites [Figure 9].
Figure 8: (a) Intraoperative photograph (b) Photograph showing primary closure

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Figure 9: Orthopantomogram after three months

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   Discussion Top


GGS was first characterized by Gorlin and Goltz but first reported by Jarisch and White,[2] also called nevoid basal cell carcinoma syndrome or basal cell nevus syndrome, or Jaw cyst-Bifid rib syndrome. It is an autosomal-dominant neurocutaneous disease characterized by developmental defects including bifid ribs, palmar pits, and various tumors including basal cell carcinoma and OKC.[3] In the general population, the incidence of GGS has been reported to be 1 in 50,000–150,000.[4]

Clinical features: Evans et al.[5],[6] first established major and minor criteria for the syndrome diagnosis and later modified by Kimonis et al.[7] The presence of two major and one minor or one major and three minor criteria is necessary to establish the diagnosis.[8] In our case, most criteria were fulfilled; features are given below in the tables [Table 1] and [Table 2].
Table 1: Showing co-relation of major criteria with our case. √- seen, ×- not seen

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Table 2: Co-relation of minor criteria with our case. √- seen, ×- not seen

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Management: GGS requires a multidisciplinary specialty approach, early detection, and management of the condition, which reduces morbidity and mortality.[2] Methods of treatment are conservative, aggressive, or radical. Conservative treatment consists of the enucleation of the lesion from the bone, which has a higher recurrence risk due to the presence of satellite micro-cysts.[9] To reduce the recurrence risk, enucleation is followed by cryotherapy using liquid-nitrogen (-70°C) or chemical curettage using Carnoy's solution which is applied to the surrounding bone margins. However, cryotherapy is associated with an 11% recurrence risk, whereas Carnoy's solution causes only <2% recurrence risk. Voorsmit et al. had demonstrated that Carnoy's solution penetrates the bone to a depth of - 1.54 mm following its application for 5 min without any damage to the inferior alveolar nerve.[10],[11] In the present case, we adopted a conservative treatment plan for OKC and the replacement of missing teeth.


   Conclusion Top


In India, not many cases have been reported, and here we report a rare case of GGS and stress the importance of a multidisciplinary approach in its management. Thorough clinical examination and radiographic investigations have prompted us towards an early diagnosis of the disease, which is very important to prevent recurrence and for a better survival rate, as OKC of the jaws can cause disfigurement of the face, mobility, and loss of teeth.

PATIENT PERSPECTIVE - Early and accurate diagnosis has benefited our patient for appropriate treatment. The patient is under follow-up, and there is no evidence of recurrence clinically and radiographically. The patient said, “he is happy with the treatment outcome.”

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Key message

Multiple cystic lesions are usually concealed and could be associated with syndromes.

Acknowledgements

Above all, I pay my gratitude to the almighty, the Creator. I would like to express my humble gratitude to my respected guide and teacher, Professor, Dr. Arati Paranjpe Mam for her enthusiastic support, keen interest, constant motivation, and unlimited patience throughout and being an inspiration. I would also like to thank my esteemed teacher, Professor and Head, Dr. Avinash Kshar Sir; respected staff members Professor, Dr. Raghavendra Byakodi Sir, Readers, Dr. Sunil Awale Sir and Dr. Manishkumar Shete Sir for their timely guidance, help, and support. I would specially like to thank my staff members of Department of Oral Surgery, Dr. Numaan Nisar Sir and Dr. Amruta Shinde Mam for surgical courtesy and support.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Janjua OS, Tariq R, Khalid MU, Qureshi SM, Ali K. Presentation and management of syndromic and non-syndromic patients with multiple odontogenic keratocysts. Oral Maxillofac Surg Cases 2022;8:100253.  Back to cited text no. 1
    
2.
Thalakoti S, Geller T. Basal cell nevus syndrome or Gorlin syndrome. Handb Clin Neurol 2015;132:119-28.  Back to cited text no. 2
    
3.
Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review. Pediatr Int 2014;56:667-74.  Back to cited text no. 3
    
4.
Joshi PS, Deshmukh V, Golgire S. Gorlin-Goltz syndrome. Dent Res J 2012;9:100-6.  Back to cited text no. 4
    
5.
Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews. United States, Seattle (WA): University of Washington; Seattle. p. 1993-2022.  Back to cited text no. 5
    
6.
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: Results of a population-based study. J Med Genet 1993;30:460-4.  Back to cited text no. 6
    
7.
Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 2004;6:495-502.  Back to cited text no. 7
    
8.
Bresler SC, Padwa BL, Granter SR. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol 2016;10:119-24.  Back to cited text no. 8
    
9.
Mendes RA, Carvalho JF, van der Waal I. Characterization, and management of the keratocystic odontogenic tumor about its histopathological and biological features. Oral Oncol 2010;46:219-25.  Back to cited text no. 9
    
10.
Jamwal SK, Rai KK, Ramakanth CK, Veerbhadrappa UK, Geetha NT. Multiple odontogenic keratocysts in nonsyndromic patients-A case report and review of literature. J Contemp Dent 2019;9:46-52.  Back to cited text no. 10
    
11.
Voorsmit RA, Stoelinga PJ, van Haelst UJ, et al. The management of keratocysts. J Maxillofac Surg 1981;9:228-36.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]
 
 
    Tables

  [Table 1], [Table 2]



 

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