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 Table of Contents  
CASE REPORT
Year : 2019  |  Volume : 31  |  Issue : 1  |  Page : 84-87

Diagnostic approach to recurrent multiple odontogenic Cyst—Gorlin–Goltz syndrome


1 Department of Oral Medicine and Radiology, Mahe Institute of Dental Sciences and Hospital, Mahe, Puducherry, India
2 Department of Oral Pathology and Microbiology, Mahe Institute of Dental Sciences and Hospital, Mahe, Puducherry, India

Date of Submission26-Sep-2018
Date of Acceptance04-Dec-2018
Date of Web Publication23-Apr-2019

Correspondence Address:
Dr. Jeena Sebastian
Department of Oral Medicine and Radiology, Mahe institute of Dental Sciences, U T of Puducherry, Mahe - 673 310, Puducherry
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_164_18

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   Abstract 


The occurrence of multiple odontogenic cysts in jaw bones is not a very common entity. Such occurrence should be ruled out for any association with the Gorlin–Goltz syndromes. It is important to diagnose the lesion and their associations with other features of the syndrome. Oral health care professionals play a very important role in early diagnosis and help in multidisciplinary approach to manage the condition for betterment of the patient. This paper highlights the multiple clinical manifestations of the syndrome with appropriate management strategies and recall protocols.

Keywords: Basal cell carcinoma, bifid rib, Gorlin–Goltz syndrome, odontogenic cyst


How to cite this article:
Sebastian J, Nikhilraj, Shakunthala G K, Roshin C N. Diagnostic approach to recurrent multiple odontogenic Cyst—Gorlin–Goltz syndrome. J Indian Acad Oral Med Radiol 2019;31:84-7

How to cite this URL:
Sebastian J, Nikhilraj, Shakunthala G K, Roshin C N. Diagnostic approach to recurrent multiple odontogenic Cyst—Gorlin–Goltz syndrome. J Indian Acad Oral Med Radiol [serial online] 2019 [cited 2019 Jun 20];31:84-7. Available from: http://www.jiaomr.in/text.asp?2019/31/1/84/256889




   Introduction Top


Gorlin–Goltz syndrome was first described in 1960 by Gorlin and Goltz as an autosomal dominant disorder with a genetic locus on chromosome subbands and bands 9q22.3-q31, as determined with linkage analysis.[1] It is characterized by the presence of multiple cutaneous, skeletal, ophthalmic, and neurologic abnormalities. In addition, it comprises skeletal features such as the bifid rib, frontal and parietal bossing, mandibular prognathism, and cutaneous abnormalities such as multiple basal cell carcinomas and palmar and plantar keratosis. In this case report, we are presenting a rare case of recurrent multiple cystic lesions with bifid ribs and mandibular prognathism.[2],[3]


   Case History Top


An 18-year-old male patient reported with the chief complaint of pain on the lower left side of the face since 5 months. According to his history, he had a similar kind of swelling and pain in the upper and lower jaw 3 years back and diagnosed as odontogenic keratocyst. The patient's medical history was noncontributory, and all the vitals were within normal limits. On extra oral examination, there was mild facial asymmetry on the right side with mandibular prognathism [Figure 1]. Intraoral finding included retained 75, missing 23, 27, and 35.
Figure 1: Extra oral picture revealing mild facial asymmetry with mandibular prognathism

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Panoramic radiograph revealed a well-defined homogeneous unilocular radiolucency of size 1 × 1 cm in the periapical region of 15 having a sclerotic border. An inverted pear-shaped clear radiolucency with a sclerotic border was seen between the roots of 22 and 24 displacing the roots of 24. A round radiolucency of 5 mm diameter was seen with sclerotic border near the interdental region of 45 and 46 [Figure 2]. The earlier findings were confirmed with IOPA radiographs. Due to the presence of multiple cysts such as lesions in the jaw and recurrence of cyst, we considered the possibility of Gorlin–Goltz syndrome. The patient was subjected for dermatological examination, which did not reveal nevi and palmar and plantar pitting. So, further investigations were done including chest radiograph that revealed bifid ribs [Figure 3].
Figure 2: Panoramic radiography revealed multiple small corticated radiolucent lesions in relation to 14, 15, 23, and 24 and 45, 46

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Figure 3: AP view of chest depicting bifid ribs

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CT scan was advised for further diagnosis and treatment planning. The findings of the CT scan showed multiple cystic lesions in both the jaws revealing three expansile osteolytic lesions, two in maxilla and one in mandible; maxillary lesion shows thinning and breeching of the palatal cortical plate. The CT scan of the brain shows calcification on falx cerebri [Figure 4].
Figure 4: CT image of brain showing calcification of falx cerebri

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Blood investigations were within the normal limits, and surgical enucleation of cystic lesions was done on the both right and left sides of the maxilla followed by curettage under general anesthesia [Figure 5]. Histopathological report revealed the overall features suggestive of odontogenic keratocyst [Figure 6] and [Figure 7]. So, based on history, clinical examination, radiological examination, and histopathlogical examination, a final diagnosis of Gorlin–Goltz syndrome was given. The patient was followed-up after every 3 months for a year after the surgery and was advised regular follow-up.
Figure 5: Intraoperative photograph revealing exposed cyst site

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Figure 6: Gross specimen of the cyst enucleated

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Figure 7: Microscopic image depicting odontogenic keratocyst

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   Discussion Top


Gorlin–Goltz syndrome is an autosomal dominant disorder with high penetrance and variable phenotype expressiveness that can manifest itself spontaneously.[1],[2] It was first described in 1894 by Jarisch and White. In 1939, Straith described a familial case with multiple basocellular carcinoma and cysts. In 1960, Gorlin and Goltz established a classical triad that characterizes the diagnosis of this syndrome (multiple basocellular epitheliomas, keratocyst in the jaws and bifid ribs). This triad was later modified by Raynee et al. who established that for the diagnosis at least cyst had to appear in combination with calcification of falx cerebri or palmar and plantar pits.[3],[4]

The presence of two major or one major and two minor criteria is essential for the diagnosis of Gorlin–Goltz syndrome.[5],[6]

The major criteria

  1. More than two basal cell carcinomas or one under the age of 20
  2. Odontogenic keratocysts
  3. Three or more palmar or plantar pits
  4. Bilamellar calcification of the falx cerebri
  5. Bifid, fused, or splayed ribs
  6. 6. First degree relative with nevus basal cell carcinoma.


The minor criteria

  1. Macrocephaly adjusted for height
  2. Frontal bossing, cleft lip/palate
  3. Sprengel deformity, pectus deformity, and syndactyly of digits
  4. Radiology abnormalities: Bridging of sella turcica
  5. Ovarian fibroma
  6. Medulloblastoma.


Both the major and minor criteria present in our patient were odontogenic keratocyst, bifid ribs, mandibular prognathism, and calcification of falx cerebri helping in the diagnosis of Gorlin–Goltz syndrome.

It is of great importance to make the diagnosis at an early stage because severity in complications such as destruction and secondary oral maxillofacial deformities of jaw cyst may occur. With cases of basal cell carcinoma, radiation therapy should be avoided because it causes invasion of basal cell carcinomas years later. Removal of large cyst occasionally weakens the remaining bony integrity and places it at risk of pathologic fracture.[7] Genetic counseling that considers the genetic risks is desirable for all patients with this syndrome.[8]

It is important to keep in mind the existence of this syndrome and to recognize the presence of some major criteria that are easily recognizable in the CT scan of the head and neck, and brain to thus establish the diagnosis and better management. In this case, the patient had a history of similar kind of surgeries in the past for cyst enucleation, but the prospect of the Gorlin–Goltz syndrome was not considered at that time; hence, no frequent follow-ups were advised to the patient. It is essential to follow-up the patients with diagnosed syndromes for the rest of their lives, because they can produce recurrence of odontogenic cysts and basal cell carcinomas. In young children who are at risk, medulloblastomas necessitate a neurological examination every 6 months, and intermittent MRIs should be considered in children who are younger than 7 years of age. Considering this in our case also we have advised this patient for routine neurological examination. Odontogenic keratocysts require dental follow-up visits, including a periodic radiographical evaluation every 6 months, especially in childhood and early adolescence.[9]

It is important that the whole family of the patients with the Gorlin–Goltz syndrome should have a thorough clinical examination and genetic counseling should be offered, as it is inherited as an autosomal dominant disorder.

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

1.
Gu XM, Zhao HS, Sun LS, Li TJ. PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res 2006;85:859-63.  Back to cited text no. 1
    
2.
Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. Human homolog of patched a candidate gene for the basal cell nevus syndrome. Science 1996;272:1668-71.  Back to cited text no. 2
    
3.
Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha SagredoA, Aguirre Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Buccal 2008;13:E338-43.  Back to cited text no. 3
    
4.
Dua N, Kapila R, Trivedi A, Gupta SD, Mahajan P. Gorlin-Goltz syndrome- A rare case report. Ann Dent Res 2011;1:62-6.  Back to cited text no. 4
    
5.
Kiran NK, Tilak Raj TN, Mukunda KS, Rajashekar Reddy V. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Contemp Clin Dent 2012;3:514-8.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Mufadddel A, Alsabousi M, Salih B, Alhassani G, Osman OT. A case of Gorlin-Goltz syndrome presented with psychiatric features. Behav Neourol 2014;2014:830874.  Back to cited text no. 6
    
7.
Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome a review of the literature. Int J Oral Maxillofac Surg 2004;33:117-24.  Back to cited text no. 7
    
8.
Kohli M, Kohli M, Sharma N, Siddiqui SR, Tulsi SPS. Gorlin-Goltz syndrome. Natl J Maxillofac Surg 2010;1:50-2.  Back to cited text no. 8
[PUBMED]  [Full text]  
9.
Danie Bl. Nevoid Basal Cell Carcinoma Syndrome: Follow up [Internet] 2010. [Updated 2009 Mar 12; cited 2010 Jan 20]. Available from: http://emedicine.medscape.com/article/1101196- follow-up.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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