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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 16  |  Issue : 2  |  Page : 165-170

A case of non-syndromic multiple odontogenic keratocyst with isolated dentigerous cyst: A diagnostic conundrum


1 Division of Oral Pathology, 8 Air Force Dental Centre, Kanpur, Uttar Pradesh, India
2 Department of Dental Surgery and Oral Health Sciences, AFMC, Pune, Maharashtra, India

Date of Submission12-Aug-2021
Date of Decision14-Feb-2022
Date of Acceptance02-Jun-2022
Date of Web Publication21-Dec-2022

Correspondence Address:
Sudip Indu
Division of Oral Pathology, 8 Air Force Dental Centre, Kanpur - 228 004, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jodd.jodd_36_21

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  Abstract 


Odontogenic keratocyst (OKC) is a common developmental odontogenic cyst affecting the maxillofacial region. They can occur in two different forms, either as solitary (non-syndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs are usually seen in association with Gorlin–Goltz syndrome or otherwise called nevoid basal cell carcinoma syndrome. However, approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation. This article reports a case of multiple OKCs of orthokeratinised variant in a non-syndromic patient along with an isolated dentigerous cyst associated with impacted teeth in one of the quadrants. Simultaneous occurrence of dentigerous cyst along with multiple OKCs may be coincidental. Impacted teeth must be radiographed and evaluated histopathologically to rule out varied lesions and associated complications with them.

Keywords: Gorlin–Goltz syndrome, impacted teeth, isolated dentigerous cyst, non-syndromic odontogenic keratocyst, orthokeratinised variant odontogenic keratocyst, surgical curettage


How to cite this article:
Indu S, Roy ID, Tomar K, Jakka S, Singh AK. A case of non-syndromic multiple odontogenic keratocyst with isolated dentigerous cyst: A diagnostic conundrum. J Dent Def Sect. 2022;16:165-70

How to cite this URL:
Indu S, Roy ID, Tomar K, Jakka S, Singh AK. A case of non-syndromic multiple odontogenic keratocyst with isolated dentigerous cyst: A diagnostic conundrum. J Dent Def Sect. [serial online] 2022 [cited 2023 Jan 31];16:165-70. Available from: http://www.journaldds.org/text.asp?2022/16/2/165/364520




  Introduction Top


Odontogenic keratocyst (OKC) is one of the most common developmental cysts affecting the maxillofacial region, was designated as keratocystic odontogenic tumour (KCOT) by the World Health Organization in 2005. However, it was reclassified as a cyst in 2017.[1] OKC is known to be a benign uni- or multicystic intraosseous tumour of the odontogenic origin. Most of the OKCs have a characteristic parakeratinised stratified squamous cystic epithelium with clinical aggressive infiltrative nature.[2] Multiple OKCs are unusual and their occurrence is often associated with nevoid basal cell carcinoma syndrome (NBCCS), Ehlers–Danlos syndrome etc.[3],[4] This lesion is inherited as autosomal dominant trait and is characterised by total penetrance and variable expressivity.[5],[6] Diagnosis should be based on careful evaluation of all major and minor clinical and radiological criteria and ideally should be confirmed by DNA analysis of patched drosophila segment polarity gene patched (PTCH) gene mutation.[7],[8] Molecular genetic studies have shown nevoid basal cell carcinoma syndrome (NBCCS) to be caused by mutations in the PTCH (patched) gene found on chromosome arm 9q22.3, 9q31 and 1p32.[9],[10]

Patients affected with NBCCS may manifest with basal cell carcinomas, multiple OKCs, palmar and/or plantar pits and ectopic calcifications of falx cerebri. These features are considered major diagnostic criteria. Cardiac and ovarian fibromas, mild mandibular prognathism, frontal and bilateral bossing contribute towards minor criteria.[11],[12] Various literature search revealed that 5.8% of multiple OKCs presented without any features of a syndrome and around 8.1% were associated with NBCCS.[13] This article is presenting a rare case of non-syndromic OKC with a simultaneous occurrence of a dentigerous cyst.


  Case Report Top


A 23-year-old female patient reported to the division of oral and maxillofacial surgery with a chief complaint of swelling on the left side of the face for the past 7 days [Figure 1]. The patient was apparently normal 4 months ago after which she started experiencing pain on the lower left teeth region, which gradually increased in intensity. She consulted a private local dentist where an intra-oral periapical was advised. A cyst was identified for which subsequently an orthopantomogram (OPG) was advised. After X-ray review, she was advised to undergo surgery. Later, a computed tomography (CT) was also advised.
Figure 1: The patient reported with swelling on the left side of the face and below the eyelids

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The patient's family history past medical and dental history is not associated with any relevant findings. All the vital signs were in the normal range. On extraoral inspection, a generalised diffuse swelling on the left side of the face was noticed obliterating the eyelids. The size of the swelling was roughly about 7 cm × 9 cm extending superiorly from ala of the nose to the preauricular region. The colour of the skin over the swelling was reddish; borders were ill-defined with no evidence of draining sinus. On palpation, the inspectory findings were confirmed. The swelling was compressible, ovoid in shape, colour not simulating with adjacent skin. There was tenderness on palpation, with a mild increase in temperature and no evidence of any neurological deficit.

On intraoral examination, mouth opening was restricted. The buccal vestibule was obliterated on the left side of the face extending from the 23 to 26 region. No draining sinus was noticed. Hard tissue examination of the teeth revealed missing third molars from all quadrants along with 36. 47 which were tilted lingually [Figure 2]. There was no evidence of any clinically visible active caries. The patient had fairly good oral hygiene.
Figure 2: Intraoral examination revealed missing 36.38 along with lingually tilted 47

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Provisional diagnosis of facial space infection of mid-face left side was postulated. Radiographic examination of OPG revealed.

  1. Left maxillary region: An expansile osteolytic lesion involving the left maxillary sinus, eroding the infratemporal wall extending in the nasal floor measuring about 4 cm × 4 cm × 4.2 cm in anteroposterior, superoinferior and transverse direction
  2. Right maxillary region: Exhibited an impacted 18 associated with a similar osteolytic lesion measuring 2 cm × 1.2 cm
  3. Right and left mandibular ramus: Bilateral osteolytic lesion measuring 4.9 cm × 2 cm × 5 cm on the right side and 5.5 cm × 1.9 cm × 5 cm on the left side along with impacted 38 [Figure 3].
Figure 3: OPG showing multiple osteolytic lesion with well-demarcated borders in all quadrants along with impacted 18.38 and associated radiolucency, OPG: Orthopantomogram

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Radiographic examination of CT 3D facial reconstruction showed extensive bony expansion of the buccal and lingual cortex bilaterally with bony perforation at isolated areas [Figure 4].
Figure 4: Three-dimensional CT reconstruction showing buccal and lingual cortex expansion, CT: Computed tomography

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An incision and drainage along with incisional biopsy were performed from the 26 to 27 region. The histopathology was suggestive of an OKC.

Correlating radiologically, surgical curettage under GA along with the removal of cystic lining and chemical cauterisation with copious irrigation was carried out from all the quadrants along with the extraction of impacted teeth. Excised specimen was sent for histopathological examination.

At the grossing table, the excised specimen appeared defragmented with multiple cystic wall-like structures and keratinous cheesy material [Figure 5]. After processing, the tissue samples were sectioned and stained with haematoxylin and eosin.
Figure 5: Surgically excised specimen showing defragmented cystic lining along with keratinous cheesy material for grossing

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Histopathology

The histopathologic examination of the excised specimen revealed cystic lining of the mandibular lesion which was corrugated orthokeratinised epithelium in nature with uniform thickness of 5–6 cells. A prominent stratum granulosum layer with marked keratohyalin granules was noted in most of the areas. The cystic epithelium was devoid of any rete ridges arrangement and showed tendency of stripping off from the underlying capsule. The fibrous cystic wall had minimal inflammatory component and no evidence of any satellite or daughter cysts. All these features established the diagnosis of orthokeratinised variant of OKC for the mandibular lesion [Figure 6]a and [Figure 6]b. However, sections from the right side maxillary lesion showed the cystic epithelium to be thin, compressed 2 to 3 cells layered simulating a reduced enamel epithelium with fibrous cystic wall free of any inflammatory component. With these features a diagnosis of dentigerous cyst associated with impacted 18 [Figure 7].
Figure 6: (a) Haematoxylin and eosin image showing cystic lining epithelium with palisaded nuclei and layer of orthokeratin (×200). (b) Haematoxylin and eosin image dense orthokeratin layer with prominent stratum granulosum and flattened basal layer (×400)

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Figure 7: Haematoxylin and eosin image showing cystic lining epithelium thin compressed 2–3 cell layered thick simulating reduced enamel epithelium (×200)

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With definitive diagnosis of multiple OKCs in mandibular lesion bilaterally and dentigerous cyst in maxillary right side lesion associated with impacted 18, a diagnostic workup was done to check for clinical manifestations of NBCCS.

Clinical and radiographical evaluation of the patient revealed no palmar and plantar pits, no evidence of any basal cell carcinoma such as ulcerative lesion on the face, no frontal bossing, no calcified falx cerebri on the skull radiography and no bifid ribs on chest X-ray [Figure 8]a,[Figure 8]b,[Figure 8]c,[Figure 8]d. An attempt was made to evaluate and study the mutation of PTCH gene in the patient's sample, but the same could not be carried out due to the non-availability of the genetic test within our hospital premises and the huge cost factor involved if the same was carried out in a civil laboratory.
Figure 8: (a) No evidence of any palmar pits. (b) No plantar pits. (c) No evidence of any bifid ribs. (d) No evidence of any calcification of falx cerebri

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Taking all the above findings into consideration, we reached a final conclusion for our patient and designated it as 'A Case of Non-Syndromic Multiple OKCs with isolated Dentigerous Cyst'.


  Discussion Top


OKC is generally found in the age group of 10–40 years with mandible being most commonly affected in 60%–80% of cases with a marked tendency to occur in the posterior body and ascending ramus similar to our case.[14],[15],[16] In about 40% of cases, an unerupted tooth is seen in association with the lesion.[17]

Findings of Habibi et al.[13] a study on the Iranian population showed that 8.1% of 83 cases with KCOTs, were associated with NBCCS and 7.6% of them had recurrence, but none of the cases with multiple KCOTs were non-syndromic. However, approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation.[16],[17],[18] Similar to the findings of our case, non-syndromic multiple OKCs may occur due to the multifocal nature of OKC rather than a genetic defect.[19] Our present case involves the simultaneous occurrence of multiple OKCs and dentigerous cysts, a first of its kind reported in the literature to the best of our knowledge. All cases of multiple OKCs in non-syndromic patients showed partial expression of NBCCS.[3] We could not elucidate the genetic expression in our case as the PTCH expression could not be evaluated.

The aetiopathogenesis of OKC is known to be associated with patched-1 (PTCH-1) inactivation of hedgehog (HH) signalling pathway which controls cell proliferation and differentiation.[20] PTCH-1 protein is the receptor for sonic HH (SHH) protein. PTCH-1 inhibits the signalling by repressing smoothened activity that leads to nuclear GLI activation.[21] Gorlin–Goltz syndrome or the NBCCS is usually associated with multiple OKCs as its first manifestation; hence, we as oral pathologists have a crucial role in its early detection.[22] Also, reported by Kulkarni et al., only a few patients with multiple OKCs have other characteristic symptoms of Gorlin–Goltz syndrome.[23] Thus, it has been suggested that multiple keratocysts alone may be confirmatory of this syndrome.[23]

At present, our reported case has only multiple OKCs without any other clinical manifestations associated with the syndrome. As OKCs may be one of the first manifestations of this syndrome, it becomes imperative for us to have a long follow-up of our patient just to monitor whether any other defect develops subsequently at a later date. Gorlin–Goltz syndrome shows a spectrum of clinical manifestations that can be broadly divided into six categories as shown in [Table 1].[7]
Table 1: Clinical manifestations of Gorlin–Goltz syndrome

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Histologically, parakeratotic type of cystic epithelium is noted in syndromic OKCs. Our case mostly had orthokeratinised variant, thus supporting the theory that all non-syndromic OKCs are of orthokeratinised variant and are known to behave less aggressively than the parakeratinised variant.[7]

Various treatment modalities for OKC have been practised ranging from simple curettage, enucleation along with cauterisation with Carnoy's solution, marsupialisation and marginal or segmental resection.[24] Furthermore, molecular therapies of suppression of the SHH signalling pathway can be an effective treatment for OKC are been postulated.[25]


  Conclusion Top


After extensive literature search and to the best of our knowledge this is one of the very first cases where a patient had the concomitant presence of dentigerous and multiple OKCs at the same time in different quadrants of the oral cavity. This diversity in clinical manifestations can lead to misdiagnoses and often to late diagnoses. Hence, the experience of the practitioner, who correctly interprets the signs and draws a connection to a possibly underlying syndrome, and the experience of the pathologist, who is able to identify subtle histological differences, are essential.[26]

An interdisciplinary approach is required for the comprehensive treatment of this group of patients. While planning the treatment for multiple OKCs due consideration has to be given for detailed clinical evaluation and long follow-up. Early diagnosis will often make it possible to use conservative therapies rather than complex treatments. Furthermore, it offers patients and their families the chance of discovering the possible hereditary risks of the condition allowing for appropriate genetic counselling and serial screening for the development of malignancies and other complications besides OKCs.[27]

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

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Habibi A, Saghravanian N, Habibi M, Mellati E, Habibi M. Keratocystic odontogenic tumour: A 10-year retrospective study of 83 cases in an Iranian population. J Oral Sci 2007;49:229-35.  Back to cited text no. 13
    
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Brannon RB. The odontogenic keratocyst. A clinicopathologic study of 312 cases. Part I. Clinical features. Oral Surg Oral Med Oral Pathol 1976;42:54-72.  Back to cited text no. 15
    
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Chirapathomsakul D, Sastravaha P, Jansisyanont P. A review of odontogenic keratocysts and the behavior of recurrences. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006;101:5-9.  Back to cited text no. 16
    
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Bartake A, Shreekanth N, Prabhu S, Gopalkrishnan K. Non-syndromic recurrent multiple odontogenic keratocysts: A case report. J Dent (Tehran) 2011;8:96-100.  Back to cited text no. 19
    
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Kaminagakura E, Almeida JD, Carvalho YR, Franco RC, Soares FA, Rocha RM, et al. Keratocyst of the buccal mucosa: Case report and immunohistochemical comparative study with sporadic intraosseous keratocystic odontogenic tumour. Oral Surg Oral Med Oral Pathol Oral Radiol 2013;116:e387-92.  Back to cited text no. 21
    
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Kulkarni GH, Khaji SI, Metkari S, Kulkarni HS, Kulkarni R. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report. Contemp Clin Dent 2014;5:419-21.  Back to cited text no. 23
[PUBMED]  [Full text]  
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Pogrel MA. Treatment of keratocysts: The case for decompression and marsupialization. J Oral Maxillofac Surg 2005;63:1667-73.  Back to cited text no. 24
    
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Gomez RS, De Marco L. Possible molecular approach to the treatment of odontogenic keratocyst. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005;99:527-8.  Back to cited text no. 25
    
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Kalia V, Kaushal N, Kalra G. The syndromic multiple odontogenic keratocyst in siblings: A familial study. Ann Maxillofac Surg 2011;1:77-82.  Back to cited text no. 27
[PUBMED]  [Full text]  


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