Multiple cystic lesions of the jaws: Think about Gorlin–Goltz syndrome

Laila Benjelloun; Ayman El Farouki; Taleb Bouchra

doi:10.4103/jomr.jomr_3_21

CASE REPORT

Year : 2021 | Volume : 9 | Issue : 1 | Page : 29-34

Multiple cystic lesions of the jaws: Think about Gorlin–Goltz syndrome

Laila Benjelloun¹, Ayman El Farouki², Taleb Bouchra¹
¹ Department of Oral Surgery, Mohammed V University of Rabat, Faculty of Dentisty, Laayoune, Morocco
² Department of Radiology, Military Hospital Laayoune, Laayoune, Morocco

Date of Submission	06-Feb-2021
Date of Decision	18-Feb-2021
Date of Acceptance	20-Feb-2021
Date of Web Publication	20-May-2021

Correspondence Address:
Laila Benjelloun
Avenue Mohamed El Jazouli, 6212 Madinat Al Irfane, Rabat
Morocco

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/jomr.jomr_3_21

Abstract

Cystic lesions of the jaws are usually present as single lesions. Rarely, they can occur as multiple cysts occupying more than one quadrant of the jaws. It can be then part of a syndrome. Gorlin–Goltz syndrome is an autosomal dominant inherited condition comprising the principal triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. It is a syndrome of particular interest to the oral and maxillofacial health experts. Especially that the presence of jaw cysts is the early diagnostic feature of this syndrome, and this can be incidentally identified by routine dental radiographs. It is therefore important to know the main clinical and especially radiological features of this rare syndrome. The case presented is about a patient aged 24 who presented with multiple odontogenic keratocysts as the first signs of a Gorlin Goltz syndrome, that was later confirmed by other signs.

Keywords: Gorlin Goltz syndrome, multiple keratocysts, nevoid basal cell carcinoma syndrome

How to cite this article:
Benjelloun L, El Farouki A, Bouchra T. Multiple cystic lesions of the jaws: Think about Gorlin–Goltz syndrome. J Oral Maxillofac Radiol 2021;9:29-34

How to cite this URL:
Benjelloun L, El Farouki A, Bouchra T. Multiple cystic lesions of the jaws: Think about Gorlin–Goltz syndrome. J Oral Maxillofac Radiol [serial online] 2021 [cited 2023 Mar 29];9:29-34. Available from: https://www.joomr.org/text.asp?2021/9/1/29/316483

Introduction

Multiple cysts in the jaws are a rare situation. Gorlin–Goltz syndrome (GGS) is one of the syndromes that we must think about when multiple cysts are present on a panoramic radiograph. GGS is a multisystemic disease characterized by a predisposition to neoplasms and other developmental abnormalities.^[1]

Gorlin and Goltz^[2] described the classical triad composed of multiple basal cell carcinoma, odontogenic keratocysts (OKs), and bifid ribs that characterized the diagnosis of this syndrome.

Multiple OKs of the jaw can be the first or the only manifestation of the pathology. Dentists must know about this condition to contribute to early detection of the disease and in prevention of its complications.

Case Report

A male patient aged 24, without a family history of disease, presented for the management of a left ramus lesion, which he knew about for almost 2 years and left untreated because of personal conditions. The patient reported that he was also operated for two cystic lesions 2 years ago in the right molar region and incisive region of the mandible. Complete details of these surgeries were not available, as they were performed in a different town.

Intraoral examination revealed the absence of teeth 18, 27, 28, 38, and 48. There was also a slight expansion of the buccal cortical plate in the left maxillary posterior region [Figure 1] [Figure 2] [Figure 3].

Figure 1: Panoramic radiograph showing multiple cystic lesions: in the left molar region of the maxilla, in the left ramus and the right molar region of the mandible

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Figure 2: Intraoral view showing a slight expansion in the region of 27 and 28 which were absents

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Figure 3: Intraoral view showing the absence of 38 with no anomalies

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A panoramic radiograph was taken and revealed the presence of multiple well-defined radiolucencies: one in the left molar region of the maxilla with impacted teeth 27 and 28, of about 3 cm × 3 cm; the second lesion in the left ramus with the impacted tooth 38, of about 5 cm × 3 cm, and the third lesion in the right molar region of the mandible, of about 1 cm × 1 cm [Figure 2]. The images were suggestive of multiple OKs or dentigerous cysts. The possibility of a GGS was considered.

A maxillofacial computed tomography was then taken to precise the characteristics and the extension of the lesions [Figure 4] [Figure 5] [Figure 6] [Figure 7]. In addition, multiplanar reconstruction revealed calcification of the falx cerebri [Figure 8] and [Figure 9] and some meningeal calcifications [Figure 10].

Figure 4: Axial reconstructions showing the left hypodense maxillary lesion reaching the sinus with impacted tooth 28

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Figure 5: Sagittal reconstructions showing the left hypodense maxillary lesion reaching the sinus with impacted teeth 27 and 28

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Figure 6: Coronal reconstruction showing a hypodense right mandibular lesion

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Figure 7: Coronal reconstruction showing a large hypodense lesion in the ramus with an impacted tooth 38

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Figure 8: Coronal reconstruction showing calcification of the falx cerebri

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Figure 9: Axial reconstruction showing calcification of the falx cerebri

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Figure 10: Meningeal calcifications

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On physical examination, however, the presence of dysmorphic facial features was noticed, including ocular hypertelorism, wide nasal bridge, and skin anomalies manifesting as multiple nevi in the face and the neck [Figure 11]. Other examinations were also performed which included chest radiographs that showed the absence of bifid ribs, but the presence of vertebral anomaly was characterized by kyphoscoliosis.

Figure 11: Hypertelorism and wide nasal bridge and skin nevi

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Under local anesthesia, enucleation of the left maxillary lesion was done along with extraction of teeth 27 and 28. For the left ramus lesion, first decompression of the cyst was done, and then after reduction of the size of the lesion, enucleation with extraction of 38 was performed. The patient did not come back for the enucleation of the third right mandibular lesion.

The histopathologic report of the treated cysts revealed a diagnosis of OKs. The GGS was then confirmed.

Discussion

GGS, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease that is inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness, however, it can arise spontaneously.^[3],[4] It is considered that between 30% and 50% of patients who suffer from this syndrome do not know if any of their family members have had it. The patient in the presented case had no family history and GGS was possible because of spontaneous mutation.^[5]

The tumor suppressor gene called Patched (PTCH), located in the 9q22.3 chromosome, has been identified as the cause of GGS.^[3],[4]

This syndrome has received several names throughout the times such as “basal cell nevus syndrome,” “nevoid basal cell carcinomas syndrome,” or the most complex name of “multiple basal epithelioma, jaw cysts and bifid rib syndrome.”^[6]

The GGS presents a quite variable estimated prevalence, which goes from 1 in 57.000 to 1 in 256.000 inhabitants.^[7] This frequency varies according to the country where the study has been carried out.^[7] This syndrome presents itself in all ethnic groups and it affects both men and women in the same way.^[5]

In 1894, Jarisch and White^[8],[9] made the first descriptions of patients with this syndrome, highlighting the presence of multiple basocellular carcinomas. Nevertheless, it was not until 1960 when Gorlin and Goltz^[2] established a classical triad that characterizes the diagnosis of this syndrome: multiple basocellular epitheliomas, keratocysts in the jaws, and bifid ribs. This triad was later modified. The diagnosis was based on the 1993 Evans et al. diagnostic criteria which were later modified by Kimonis et al. in 1997.^[10],[11] The final diagnosis is made with the presence of two major criteria, 1 major criterion and molecular confirmation, or 1 major and 2 minor criteria [Table 1].^{[10],[11],[12],[13]}

Table 1: Diagnostic criteria for Gorlin Goltz syndrome (Kimono and others)

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Major criteria included the presence of more than two basal cell carcinomas or one under the age of 20 years, histologically proven OK of the jaw, cutaneous palmar or plantar pits, calcification of the falx cerebri, and bifid, fused or markedly splayed ribs. Together with these major features, a lot of minor criteria have been described, such as orofacial congenital malformations (cleft lip or palate, frontal bossing, or moderate or severe hypertelorism), skeletal and radiological abnormalities (bridging of the sella turcica and vertebral anomalies), narrow sloping shoulders, ovarian fibroma, and medulloblastoma.^{[10],[14],[15]} On certain occasions, a tall height and even similar characteristics to acromegaly have been associated with the syndrome.^[5] The present case report showed two major features: multiple KCOTs of the jaws, and calcification of the falx cerebri but no evidence of basal cell carcinoma, and some minor criteria such as ocular hypertelorism, vertebral anomalies characterized by kyphoscoliosis, and skin nevi and meningeal calcifications.

Clinical features of GGS arises in the first, second, or third decade.^[6] In the present case, the features were identified in the third decade. Some of the most common clinical findings of the syndrome, according to Marotto et al.,^[16] are discovered through radiography.

Multiple OKs are among the most consistent and common features of GGS. They are found in 65%–100% of affected individuals. They are usually the first manifestation of the syndrome.^[17] These types of cysts manifest themselves for the first time during the first decade of life. When they are present in an isolated way, without any association with the syndrome, their major incidence is in the second and third decades of life.^{[1],[6],[14],[17]}

Clinically, there may be remarkably few symptoms until the cyst reaches a large size, especially when it is in the ascending ramus which supports our case who was asymptomatic at presentation.^[5],[18] The cysts are usually multiple (two to three cysts),^[15] which is also the case of the patient reported that presented with three localizations. They can be found in any part of the jaws if they are associated with the syndrome, whereas isolated OKs appear more frequently (65%–83%) in the posterior region of the mandible.^[19] In children and adolescents, the cysts may cause displacement and impactions of developing teeth.^[20]

Radiographically, OKs appear as multiple unilocular or multilocular lesions, of variable size with sclerotic borders.^[5],[6],[18]

Histologically speaking, the parakeratinized stratified squamous epithelium is the most common type (96%) which is identical to our case.^[12] Its high potential of recurrence after treatment is justified by the high mitotic epithelial activity and the presence of daughter cysts.^[4],[17]

Other frequent features of GGS are skin lesions such as cutaneous basal cell carcinomas, benign dermal cysts, and palmar and plantar keratosis or pits.^[6] Basal cell carcinomas vary from one to hundreds, and they can manifest themselves from puberty to the mid-30s. They more frequently affect the cutaneous surface of the thorax and the cervicofacial area. That is why it is important to protect patients' skin from sunshine (ultraviolet) and ionizing radiations that increase the risk of developing basal cell carcinoma.^[6]

Palmar and plantar pits are also specific signs of this syndrome, and they appear as punctiform depressions in the palms and plants' skin.^[6],[14]

Other skin signs are multiple nevi. They are present in 30%–50% of patients under 20 years of age, rising to 70% in patients over the age of 20 years. The nevi are flesh colored, reddish brown, or pearly, and the groups resemble moles, skin tags, an ordinary nevus, cell nevi, or hemangiomas.^[12] The case reported presented with multiple nevi in the face and neck and some advices were given to the patient to avoid malignant transformation.

Ectopic calcifications of the central nervous system such as calcification of falx of cerebri are another major criteria for the diagnosis of this syndrome. They are systematically searched when computed tomography is realized.^[5],[6],[14]

Spotted meningeal calcifications are rare, but they were observed in the patient reported. These signs may not result in clinical manifestations but can be useful in confirming the diagnosis.^[12]

The patient reported presented with multiple radiolucent areas in the maxilla and mandible, suggesting odontogenic keratocysts. His CT also showed calcification of the cerebral falx and meningeal calcifications. All these criteria confirmed the diagnosis of the GGS.

The treatment of GGS is the specific therapeutics of its clinical manifestations.

In the case of OKs, there are different treatment techniques to eliminate them and avoid the high rate of recurrence, which can reach up to 62% of the cases.^[4],[5],[6] There are two methods for the treatment of OKs, a conservative and an aggressive. In the conservative method, simple enucleation, decompression, or marsupialization is suggested. Aggressive methods include peripheral ostectomy, chemical curettage with Carnoy's solution, and resection.^[21] To decide which technique must be employed, the following factors have to be taken into account: lesion size, lesion extension, location, possible cortical and soft parts' damage, the age, and whether it is a primary or recurrent lesion.^[5],[14]

As OKs may be the first and only manifestation of GGS. Dentists, oral surgeons, and radiologists play an important role in the early diagnosis of GGS and in the management of cystic lesions. Hence, knowledge of the main features of the syndrome is mandatory. In any patient with multiple jaw cystic lesions on a panoramic radiograph, the possibility of the GGS must be considered. When the diagnosis is confirmed, a patient must undergo checkups at least once a year since severity in complications, such as skin and brain malignant tumors, can be reduced and so can the destruction and secondary oral maxillofacial deformities of the jaw cysts.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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