Multiple Odontogenic Keratocysts in a Non-Syndromic Patient: A Case Report and Review of Literature

INTRODUCTION

Odontogenic keratocysts (OKCs) have always been challenging in terms of diagnosis and management due to their aggressive nature and high recurrence rate. Originating from the dental lamina, these cells present with a unique histological appearance characterised by keratinised stratified squamous epithelium with hypercorrugated surface showing palisading of the basal layer with hyperchromatic nuclei. The presence of a daughter cyst becomes an indicator of recurrence.^[1] Multiple OKCs have been reported in both syndromic and non-syndromic patients. Clinically, multiple OKCs occurring in syndromic patients occur at an early age, with multiple cysts, equal frequency in the maxilla and mandible, and a higher recurrence rate of up to 82%^[2] when compared to non-syndromic patients. Histologically, the differences are that the OKC lining thickness will be smaller, with fewer total and basal nuclei, and with more frequent occurrence of the odontogenic islands and daughter cysts.^[3]

CASE REPORT

A 17-year-old male presented to our hospital with a complaint of swelling in the anterior mandible region involving the labial sulcus. A CBCT scan was advised, and it revealed three lesions in the mandible [Figure 1]. First lesion showed a large, well-defined expansile lytic cystic lesion in the body of the mandible crossing the midline, causing displacement of overlying teeth from the 46-34 region. Two similar lesions were noted bilaterally concerning 38, and 48 in the mandibular rami surrounding the mandibular 3^rd molar on both the left and right sides [Figure 1].

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Figure 1:

(a) Shows orthopantomogram view of well-defined three unilocular radiolucencies. First wrt to impacted 48 (blue circle), second from 46-34 teeth region showing root displacement (orange circle) and third associated with impacted 38 (white circle), (b) Cross section showing impacted 38 region and surrounding cystic lesion (arrows), (c) Cross section showing impacted 48 with surrounding cystic lesion (arrows).

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An incisional biopsy was done and histopathological diagnosis revealed the diagnosis of OKC. an odontogenic keratocyst. Complete excision of the lesion was performed, followed by curettage and irrigation with Carnoy’s solution, which was carried out for all three lesions, and the tissue was then sent for histopathological evaluation. On microscopic examination, a stratified squamous parakeratinised cystic lining of 5-8 cell layer thickness with the hyper-corrugated surface was seen. Basal cells showed palisading with hyperchromatic nuclei. The epithelial lining was separated from the underlying connective tissue stroma in a few areas. All these features confirmed OKC in the 46-34 region and the 48 region. Daughter cysts were also seen [Figure 2].

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Figure 2:

Photomicrographs stained with haematoxylin and eosin showing (a) the OKC lining with 3-5 cell layer thickness thrown into folds with hypercorrugation (orange arrow) seen at 4x magnification (b) cystic lumen lined the OKC lining is seen separating from underlying cyst wall (orange arrow) in the region of 46-34 at 4x magnification, and (c) OKC lining with keratinaceous debris and epithelial islands in the cyst wall (black arrow) (d) a satellite cyst identified in the region of 48 (red arrow). OKC: Odontogenic keratocyst.

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DISCUSSION

OKC has long been a highly debated jaw cyst because of its recurrence, silent growth, and questions about its neoplastic nature. Shear et al. noted that while only 10 papers per year appeared from 1963 to 2006, more than 750 papers have been published since 2007, with an annual output increasing to 47 studies per year.^[4] Multiple OKCs can occur in both sporadic and syndromic patients. Ambele et al.^[5] have compared the mutations occurring in syndromic and sporadic cases. They observed that PTCH and NOTCH1 gene mutations were observed in both syndromic and sporadic cases. Alterations on 1p13.3, 2q22.1, and 6p21.33 were detected in sporadic cases but were absent in all syndromic cases.^[5] The most commonly involved syndromes associated with multiple OKCs are Nevoid basal cell carcinoma syndrome (NBCCS), also called Gorlin-Goltz syndrome (GGS), as it is also caused by mutations in the PTCH gene. Other syndromes that are less frequently associated with multiple OKCs include Ehler-Danlos, Oro-facial-digital, Noonan, Simpson-Golabi-Behmel, Sotos, and Lowe.^[6-8] In our literature search, we found 24 cases of multiple OKCs. Out of 24, 12 cases were associated with syndromic patients who presented mainly between the 1^st and 2^nd decade of life, with an equal predilection for the maxilla and mandible, with a higher recurrence rate, while the non-syndromic patients reported with multiple OKCs were associated with an impacted 3^rd molar or canine, between the 3^rd to 5^th decade, with a higher redilection for mandible and lesser chances of recurrence as summarised in Table 1.^[9-27] In our case, the patient was a 17-year-old male who had presented with swelling in the mandibular anterior region. CBCT showed unilocular radiolucency concerning the 46-34 region and two more cystic lesions surrounding impacted 38 and 48. Microscopic examination revealed stratified squamous parakeratinised epithelium of mainly 5-8 cell layer thickness that was thrown into folds showing surface corrugation. The basal cells showed palisaded, hyperchromatic nuclei. The epithelial lining was seen separating from the underlying connective tissue capsule in a few areas, suggestive of OKC. Cyst enucleation followed by curettage and irrigation with Carnoy’s solution was done to ensure complete excision. Impacted 38 and 48 were extracted. Although the patient currently has no other symptoms that would make us suspect any associated syndrome, the occurrence of multiple OKCs at a younger age with the presence of a daughter cyst highlights the need for long-term follow-up and regular systemic evaluation to rule out NBCCS.

CONCLUSION

Multiple OKCs present a diagnostic and management challenge. Understanding the molecular basis and its association with syndromes is crucial for clinicians and pathologists. The association of multiple OKCs has been seen associated with many syndromes. This case underscores the need for vigilant follow-up. Our case adds to the literature on multiple occurrences of OKCs in non-syndromic patients. It highlights the need for further study on the genetic mutations that lead to its development and the need for targeted therapy for more conservative management. As the research continues, intricate molecular pathways involved in OKC pathogenesis and their association with the syndrome are necessary.