|Year : 2022 | Volume
| Issue : 4 | Page : 945-948
Pragati Anupkumar Bhargava1, Rahul R Bhowate1, Nikhil Wasudeorao Parate2
1 Department of Oral Medicine and Radiology, Sharad Pawar Dental College, Datta Meghe Institute of Medical Sciences, Deemed to be University, Wardha, Maharashtra, India
2 Mahalakshmi Dental Clinic, Wardha, Maharashtra, India
|Date of Submission||15-Oct-2022|
|Date of Decision||23-Oct-2022|
|Date of Acceptance||29-Oct-2022|
|Date of Web Publication||10-Feb-2023|
Dr. Pragati Anupkumar Bhargava
Department of Oral Medicine and Radiology, Sharad Pawar Dental College, Datta Meghe Institute of Medical Sciences, Deemed to be University, Sawangi (M), Wardha, Maharashtra
Source of Support: None, Conflict of Interest: None
Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant condition. Diverse incidence rates of this syndrome have been reported all over the world. It is estimated to occur 1 in 50,000–150,000. GGS is of particular interest to dental surgeons and maxillofacial radiologists because of their association with odontogenic keratocysts (OKC). GGS associated with OKCs tend was known to occur in individuals who were at a much younger age. In our case, cysts that were radiographically similar to OKCs were present in our male patient. OKCs associated with GGS are reported to be more frequent in the maxilla than in the mandible. GGS may manifest with the triad of basal cell nevi, keratocysts of the jaws, and deformities in the skeletal system. Recognition of the condition is crucial for establishment for early diagnosis as it can minimize the severity of the condition. The aim of this article was to report a case of GGS who was diagnosed primarily based on craniofacial manifestations.
Keywords: Dental radiography, Gorlin-Goltz Syndrome, odontogenic cysts
|How to cite this article:|
Bhargava PA, Bhowate RR, Parate NW. Gorlin-goltz syndrome. J Datta Meghe Inst Med Sci Univ 2022;17:945-8
| Introduction|| |
Gorlin-Goltz syndrome (GGS), which is also referred to as nevoid basal cell carcinoma syndrome, is a condition with multiorgan involvement manifesting with a wide range of cysts and tumors, with other developmental anomalies. The disorder was first described by Gorlin and Goltz in 1960 as a syndrome characterized by the primary triad of numerous basal cell nevi, keratocysts of the jaws, and deformities in the skeletal system. Despite having a strong tendency to affect multiple organs, the clinical signs and symptoms might appear suddenly. Although familial inheritance is a major etiologic factor, it was reported that about 60% of the individuals affected lacked a positive familial history. The genetic basis of the syndrome has been mapped to chromosome 9q22.3-q31.5. About 1 in 60,000 people is likely to have GGS, and both men and women are equally affected., Apart from the hallmark triad associated with the syndrome, there can be other characteristics such as calcification of the falx cerebri, macrocephaly, ocular deformities, milia of face, cleft lip and palate, spinal and rib anomalies, etc., Recognition of the condition is crucial for establishment for early diagnosis as it can minimize the severity of the condition such as the malignant transformation of the dermal and brain tumors and prevent the craniofacial abnormalities that can occur due to the expansion of the jaw cysts. The aim of this article was to report a case of GGS who was diagnosed primarily based on the unique craniofacial manifestations. Hence, recognition of the unique craniofacial features associated with various odontogenic conditions is essential in day-to-day clinical practice.
| Case Report|| |
A 19-year-old male patient reported to our outpatient department with the complaint of pain in his right side of the lower jaw. The patient reported that the swelling developed 1 month back and was initially small but has gradually progressed to a bigger size. He also reported a dull aching pain in the region of the swelling. The past medical, dental, and familial history was noncontributory.
The general examination revealed frontal and parietal bossing, ptosis, and internal strabismus of the eyes. Multiple swellings on the palm and feet similar to dermoid cysts were seen along with mild palmar and plantar pits [Figure 1] and [Figure 2]. On extraoral examination, the gross facial asymmetry with diffuse swelling on the right lower third of the face was evident. The swelling was hard to firm in consistency with mild tenderness. Obliteration of the right and left nasolabial fold was evident. On intraoral examination, there were multiple swellings in the maxillary anterior region and right and left posterior mandible region. On palpation, there was tenderness without any evident discharge [Figure 3]. Dental findings that were noticed include multiple retained deciduous teeth in the maxilla and mandible (Tooth numbers: 63, 65, 73, 83, and 85) with unerupted third molars. There were severe crowding and malocclusion with high-arched palate.
|Figure 1: Facial photograph showing frontal bossing with pronounced facial asymmetry|
Click here to view
|Figure 2: Swellings on the anterior maxilla (a), right third molar region (b) and left third molar region (c)|
Click here to view
|Figure 3: (a) Swelling similar to dermoid cysts on the feet, (b). Presence of palmar pits marked by the black arrows and swelling similar to dermoid cysts on the second finger|
Click here to view
A dental panoramic radiograph taken showed multilocular cystic radiolucencies in the maxilla and mandible with ill regular scalloped sclerotic borders, variable in size, and associated with impacted teeth. The largest cystic lesion was present in the right posterior body involving the entire ramus extending up to the right sigmoid notch [Figure 4]. The radiographic features were suggestive of multiple odontogenic keratocysts (OKC). Hence, a diagnosis of CGS was established, and the patient was advised for additional diagnostic workups.
|Figure 4: Dental panoramic radiograph demonstrating multiple cystic radiolucencies marked with the white arrows and displaced impacted teeth marked with the black arrows|
Click here to view
Therapeutic intervention and outcome
The patient was advised regarding the surgical management of the jaw cysts. Written informed consent was obtained from the patient for recording and publishing relevant clinical images and history.
| Discussion|| |
GGS is a rare autosomal dominant condition with high reentrance and wide variation in expressivity. There are varied incidences that have been reported around the world; generally, it is estimated to occur 1 in 50,000–150,000. The highest prevalence of the syndrome without the association of OKCs has been reported in the third decade of life. However, GGS associated with OKCs tends to affect and manifest in individuals at much earlier ages. Lo Muzio et al. observed that in 78% of the cases, OKCs were often the initial sign of GGS and are reported in individuals <10 years of age. There was no specific gender predilection associated with the syndrome has been reported. However, as far as odontogenic cysts in GGS are concerned, simple odontogenic cysts are more frequently reported in syndromic males, while OKCs are reported in syndromic females. In our case, cysts that were radiographically similar to OKCs were present in our male patient. OKCs associated with GGS are more common in the maxilla than the mandible; reports suggest that 69% of cases occur in the mandible and 31% in the maxilla. The mandibular incisor-canine region accounts for 18%, the molar and ramus region for 43%, and the mandibular premolar region for 7%. In the maxilla, the incisor and canine region account for 14%, followed by the molar and tuberosity region, which is 12%, and the premolar region accounts for up to 3%. In our case, we observed cysts in the right mandibular ramus region, right and left maxillary tuberosity region, mandibular incisor canine region, and left posterior body region. The largest cyst with extensive involvement was present in the right posterior body and ramus region.
Numerous craniofacial abnormalities have been linked to GGS, including a broad forehead and frontal and parietal bossing, as observed in our present case. Hypoplastic maxilla with mandibular hyperplasia exhibiting varying grades of prognathism was also reported with high-arched palate, cleft palate and lip, multiple impacted teeth, and malocclusion. Most of the dental findings were present in our case. However, we did not find significant prognathism.
The mandibular body, angle, or ramus typically exhibits unilocular or multilocular radiolucencies in GGS patients with keratocystic odontogenic tumors. The cysts may impair the growth of dentition and displace the developing teeth. In our case, cysts present in the left tuberosity region, mandibular left third molar region, mandibular incisor canine region, and right mandibular third molar region have caused the significant displacement of the associated impacted tooth, respectively.
Calcification of the falx cerebri is a common finding associated with the syndrome and can be seen on a skull radiograph. Up to 60% of patients may have ribs that are bifid, hypoplastic, fused, partly absent, or splayed on a chest X-ray; the third, fourth, and fifth ribs are most frequently afflicted. Malformations of the occipitovertebral junction, the fusion of the cervical or upper thoracic vertebrae, and tiny, pseudocystic, or lytic bone lesions showing as “flame-shaped radiolucencies” in the hands and feet are additional imaging abnormalities that might be present., Our patient was advised for a complete systemic and radiographic evaluation.
Diagnosis of GGS is established by two major and one minor or one major and three minor criteria postulated by Evans et al. [Table 1]. Despite the complete skeletal radiographic investigation, our case fulfilled the criteria for positive GGS.
For patients with suspicious clinical diagnostic criteria and for predictive testing in those who have a positive family history, genetic testing for PTCH1 is indicated. Prenatal testing is also advised if there is an established familial mutation.
Histopathological examination of the cysts is necessary to establish the diagnosis of OKCs. In addition, when compared to OKCs in nonsyndromic individuals, OKCs linked to this syndrome have been found to exhibit overexpression of the p53 and cyclin D1 (bcl-1). The treatment of the OKCs in GGS is interdisciplinary, and various treatment options have been proposed, including decompression and marsupialization; enucleation with or without adjuncts and reconstruction of the bony defect have been documented. However, in severe cases, block resection with or without preservation of the jaw continuity is preferred.
The patient expressed his anxiety due to his ignorance of the oral swelling in the initial state. However, we reassured and counseled the patient regarding the management, after which the patient developed a positive attitude regarding the condition.
| Conclusion|| |
Complete general and oral examination, along with appropriate radiographic imaging, is required in cases clinically suspicious of odontogenic cysts. Performing proper screening for syndromic conditions is also essential in the evaluation of cases with odontogenic cysts. Because early recognition of an underlying syndrome by a dental professional can aid in the appropriate treatment of the systemic condition and prevent further progression and complication.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, et al
. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature. Congenit Anom (Kyoto) 2009;49:8-14.
Hegde S, Shetty SR. Radiological features of familial Gorlin-Goltz syndrome. Imaging Sci Dent 2012;42:55-60.
Deepa MS, Paul CR, Balan A. Gorlin Goltz syndrome: A review. J Indian Acad Oral Med Radiol 2003;15:203. [Full text]
Lee BD, Kim JH, Choi DH, Koh KS, Lee SR. Recurrent odontogenic keratocysts in basal cell nevus syndrome: Report of a case. Imaging Sci Dent 2004;34:203-7.
Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al
. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308.
Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome: Unanswered issues. J Lab Clin Med 1999;134:551-2.
Casaroto AR, Loures DC, Moreschi E, Veltrini VC, Trento CL, Gottardo VD, et al.
Early diagnosis of Gorlin-Goltz syndrome: Case report. Head Face Med 2011;7:2.
Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha Sagredo A, Aguirre Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008;13:E338-43.
Patil K, Mahima VG, Gupta B. Gorlin syndrome: A case report. J Indian Soc Pedod Prev Dent 2005;23:198-203.
] [Full text]
Woolgar JA, Rippin JW, Browne RM. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol 1987;64:727-30.
Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L, et al
. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet 1999;55:34-40.
Chandran S, Marudhamuthu K, Riaz R, Balasubramaniam S. Odontogenic keratocysts in Gorlin-Goltz syndrome: A case report. J Int Oral Health 2015;7 Suppl 1:76-9.
Nilesh K, Tewary S, Zope S, Patel J, Vande A. Dental, dermatological and radiographic findings in a case of Gorlin-Goltz syndrome: Report and review. Pan Afr Med J 2017;27:96.
Singh RK, Mishra GV. Gorlin-Goltz syndrome without cutaneous manifestations. Pan Afr Med J 2021;39:239.
Melo ES, Kawamura JY, Alves CA, Nunes FD, Jorge WA, Cavalcanti MG. Imaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: A family case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004;98:232-6.
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.
Evans DG, Sims DG, Donnai D. Family implications of neonatal Gorlin's syndrome. Arch Dis Child 1991;66:1162-3.
Daneswari M, Reddy MS. Genetic mutations in Gorlin-Goltz syndrome. Indian J Hum Genet 2013;19:369-72.
] [Full text]
Doll C, Dauter K, Jöhrens K, Hartwig S, Voss JO, Klein M, et al
. Clinical characteristics and immunohistochemical analysis of p53, Ki-67 and cyclin D1 in 80 odontogenic keratocysts. J Stomatol Oral Maxillofac Surg 2018;119:359-64.
Abdullah WA. Surgical treatment of keratocystic odontogenic tumour: A review article. Saudi Dent J 2011;23:61-5.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]