Gorlin-goltz syndrome

Pragati Anupkumar Bhargava; Rahul R Bhowate; Nikhil Wasudeorao Parate

doi:10.4103/jdmimsu.jdmimsu_477_22

CASE REPORT

Year : 2022 | Volume : 17 | Issue : 4 | Page : 945-948

Gorlin-goltz syndrome

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

Correspondence Address:
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
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/jdmimsu.jdmimsu_477_22

Abstract

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

How to cite this URL:
Bhargava PA, Bhowate RR, Parate NW. Gorlin-goltz syndrome. J Datta Meghe Inst Med Sci Univ [serial online] 2022 [cited 2023 Apr 1];17:945-8. Available from: http://www.journaldmims.com/text.asp?2022/17/4/945/369512

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.^[1] 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.^[2] 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.^[3] About 1 in 60,000 people is likely to have GGS, and both men and women are equally affected.^[4],[5] 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.^[6],[7] 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.^[8] 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

Patient information

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.

Clinical findings

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

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Figure 2: Swellings on the anterior maxilla (a), right third molar region (b) and left third molar region (c)

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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

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Diagnostic assessment

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

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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.^[9] 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.^[10] 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.^[11] 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.^[12] 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%.^[11] 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.^[13] 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.^[14] The cysts may impair the growth of dentition and displace the developing teeth.^[15] 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.^[14],[16] 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].^[17] Despite the complete skeletal radiographic investigation, our case fulfilled the criteria for positive GGS.

Table 1: Diagnostic criteria for Gorlin-Goltz syndrome

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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.^[18]

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).^[19] 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.^[20]

Patient perspective

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

Nil.

Conflicts of interest

There are no conflicts of interest.

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