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Home All issues Volume 31 / No 1 (2025) J Oral Med Oral Surg, 31 1 (2025) 5 Full HTML
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J Oral Med Oral Surg
Volume 31, Number 1, 2025
Article Number 5
Number of page(s) 6
DOI https://doi.org/10.1051/mbcb/2024043
Published online 14 March 2025

© The authors, 2025

Licence Creative CommonsThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Introduction

Gorlin-Goltz syndrome, known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disease with a dominant autosomal mode of transmission whose prevalence is 1/57,000 to 1/256,000 and sex ratio 1:1 [1]. This syndrome is caused by genetic mutations affecting the PTCH1 gene (Patched protein 1), located on chromosome 9q22.1-q31. Mutations in this gene disrupt the process of regulating cell proliferation, leading to uncontrolled cell multiplication.

This syndrome is mainly characterized by predispositions to the development of malignant and body skin tumors. Mandibular keratocyst is one of the frequent oral manifestations of this syndrome. Currently, surgical enucleation of keratocysts is the most widely used therapeutic in the management of patients. However, other less invasive and more conservative techniques exist in our therapeutic arsenal. Optimal management of mandibular cysts in the context of Gorlin-Goltz syndrome is essential to prevent complications and maintain patient's quality of life [2].

Observation

A 10-year-old patient was referred to the Oral Surgery Department at the University Hospital of Rouen by her dentist further to the fortuitous discovery of a voluminous cystic-like lesion of the horizontal branch of the right part of the mandible, following a dental panoramic X-ray.

This child was born premature (35SA) with severe in utero growth retardation.

The medical history found a hydrocephalus associated with a cyst of the septum pellucidum not operated. The skin examination reveals hirsutism, aquagenic palmoplantar keratosis. She also has concentration disorders.

The facial examination reveals macrocephaly, hypertelorism, divergent strabismus and oblique palpebral slits at the bottom and outside, protrusion of the frontal bumps and deformation of the right mandibular rim.

Endobuccal examination revealed a well-limited, non-fluctuating swelling of the vestibular bone table in the right mandibular region. The milky teeth 84, 85 are mobile. There is also an anterior gap and a hyperdivergent class III.

The radiological examination (dental panoramic and tomography) reveals cystic-like lesion, homogeneous, unilocular, 4 centimeters long axis to the right mandibular horizontal branch (Fig. 1).

The vestibular cortical is blown and the bone walls are refined. Tooth 45 is included and pushed back at the basilar rim with a horizontal orientation (Figs. 2a–2c).

The neurological examination did not reveal any hypoesthesia of the chin or lips.

Due to the risk of fracture and damage to the inferior alveolar nerve, we decide to perform a cystic decompression.

Under general anesthesia, the milky teeth 84 and 85 are avulsed immediately ensuring drainage of the citrin cystic content. A cystic biopsy is performed. The cavity is irrigated with 10% povidone iodine (Betadine®). A drainage device by a pediatric urethral probe is set up on the opposite of the extraction site of the 85 and stabilized by a non-absorbable yarn (Figs. 3a and 3b). The drainage device provides continuous discharge of intra-cystic fluid.

Parents are instructed to use a drainage device to perform daily chlorhexidine irrigation at 0.12%. A clinical check-up is performed every 3 months.

The result of anatomopathological analysis leads to histological diagnosis in favor of a follicular cyst of development in relation to tooth 45.

A new drain is installed at 3 months and then renewed at 6 months (Fig. 3) to adapt to the evolution of the residual cavity following the process of centripetal re-ossification. A space maintainer by a Nance arc is realized in collaboration with the orthodontist.

The drainage device is permanently removed 9 months later after complete reconstruction of the cavity and placement of the tooth 45 on the arch.

During annual monitoring, painless vestibular tumefaction is detected next to tooth 75 (Figs. 4 and 5). Dental panoramic X-ray shows a new cystic-like image at depends on the included tooth 35.

Enucleation of the cystic lesion associated with avulsion of the tooth 75 is performed under local anesthesia. Anatomopathological examination finds a odontogenic keratocyst.

A histological review of the initial cystic lesion located in the right mandibular region was requested, suggesting an aspect compatible with a keratocyst rather than a follicular cyst of development. The presence of keratocysts in this young patient is one of the major criteria of Gorlin-Goltz syndrome. The patient also had at least two minor criteria in this syndrome such as macrocephaly, and hypertelorism.

To confirm the diagnosis of Gorlin-Goltz syndrome, she was referred to the genetics department to search for a chromosomal mutation that identified a mutation of the PTCH1 gene on chromosome 9.

Clinical and radiological follow-up at age 13 did not reveal any new cystic images (Fig. 6).

Table I

Diagnostic criteria for Gorlin-Goltz syndrome (or nevoid basal cell carcinoma. syndrome, NBCCS) [6].

thumbnail Fig. 1

Dental panoramic with a cystic-like image sector 4.
thumbnail Fig. 2

Cystic-like lesion, next to the alveolar nerve, seen on Cone Beam, on a transversal (a), sagittal (b), 3D (c) plane.
thumbnail Fig. 3

(a) Drainage device in place; (b) Intracystic drain on scanner.
thumbnail Fig. 4

Vestibular swelling near tooth 75.
thumbnail Fig. 5

X ray, one year post-surgery.
thumbnail Fig. 6

X ray, 3 years post-surgery.

Discussion

Nevoid basal cell carcinoma syndrome (NBCCS) was first described by Dr. Robert Gorlin in 1960 [3], but other evidence suggests that the syndrome was present in ancient Egypt [4].

Among clinical manifestations, odontogenic keratocysts are present in 90% of patients with NBCCS [5].

The diagnosis of Gorlin Goltz is based on major and minor criteria. Histologically proven keratocysts are among the major criteria (Tab. I). At least 2 major criteria and one minor, or one major and 3 minor are required to confirm the diagnosis [6–8].

In our case the patient presented a histologically proven keratocyst (which is a major criterion) and a macrocephaly, hypertelorism, protrusion of the frontal bumps and and a mutation of the PTCH gene, which are minor criteria.

Thus, one major and three minor criteria allow us to diagnose the Gorlin-Gotz syndrome in this case.

The oral surgeon, the dentist must know how to recognize not only oral clinical signs but also extra-oral clinical signs in order to diagnose this disease sooner.

There are other clinical signs that usually appear from the second decade of life: coarse facial features, calcification of the false brain, fusion of vertebrae, cuneiform vertebrae, bifid or fused ribs, cataract, medulloblastoma, meningioma, ovarian fibroma, fibrosarcoma, nephroblastoma.

Keratocysts are the first manifestations that appear in the first and second decade [5,6,8–11]. According to research, cystic lesions affect 13% of patients before the age of 10 and can start around the age of 7 (7.9). The most common site affected in the mandible is the molar and ramic region (44%), followed by the incisor-canine area (18%) [11]. In contrast, the majority of maxillary cysts are found in the incisor-canine (15%) and molar-tuberosity (13%) regions.

Other stomatological abnormalities include malocclusions, impacted teeth, mandibular prognathism, ectopia or dental agenesis. Cleft palates and labia are rare (5%) [12,13]. Recently, it has been described a new clinical sign corresponding to bilateral hypertrophy of the mandibular coronoid processes [14], which could be a radiological criterion of the syndrome, especially in the pediatric population.

The originality of this case lies in the conservative approach adopted in this disease to treat a wide-ranging cystic lesion, thanks to the cystic decompression method. Cystic decompression is a promising conservative management option for large area cysts. It is a minimally invasive surgical technique, allowing to gradually reduce the pressure exerted by the cyst on the bone cortical by maintaining a drainage device. This procedure allows the return ad intregrum of mandibular and dental bone structures without associated nerve damage.

This success is guaranteed, even if the lesion volume is larger than 3 cm3 [15]. Histology must be systematically performed in order to eliminate other diagnoses, such as ameloblastoma.

Compliance also remains a major element for the treatment's success (daily irrigation, monitoring the maintenance of the drainage system).

There are other techniques for treating cystic lesions such as simple enucleation, “block” resection followed by possible bone reconstruction and marsupialization. These techniques have not been used because of the risk of losing of the impacted tooth and the risk of injurying the lower alveolar nerve. More innovative treatments targeting this pathology at a molecular level using Vismodegib then second generation inhibitors are being validated to treat the symptoms of the disease [16].

By using the decompression technique, the risk of keratocyst recurrence was reduced. In addition, the long-term follow-up of the patient made it possible to detect a second lesion which was treated immediately. In the literature the recurrence rate of keratocysts varies according to the treatment performed: 30% after simple enucleation, 9–17% after enucleation and irrigation, 18% with enucleation and peripheral osteotomy, 13–14.6% with decompression, 32–33% with marsupialization, 0–8.4% after surgical resection [17]. The conservative and minimally invasive approach chosen led to a complete absence of functional and dental sequela and no negative impact on quality of life. Multidisciplinary management between the dental surgeon, oral surgeon, orthodontist, geneticist and pediatrician is the key to success in the management of Gorlin-Goltz syndrome from screening to diagnosis.

Conclusion

The fortuitous discovery of a mandibular keratocyst may be the first clinical sign of Gorlin-Goltz syndrome. Cystic decompression proves to be an effective and safe method for the management of these extensive cysts.

This case highlights the importance of knowing the clinical and radiological signs of Gorlin-Goltz syndrome in the early detection of this syndrome.

A multidisciplinary team involving dentists, dermatologists and geneticists is essential for the diagnosis, management and follow-up of these patients.

Early and appropriate management can improve the quality of life of these patients and prevent complications associated with this syndrome.

Funding

This research did not receive any specific funding.

Conflicts of interest

The authors declare that they have no conflicts of interest in relation to this article.

Data availability statement

This article has no associated data generated and/or analyzed.

Informed consent

Written informed consent was obtained from the patient.

References

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Cite this article as: Khenifi H, Rohart J, Moizan H, Benateau H. 2025. From the diagnosis of a mandibular cystic lesion to the surgical management of a case of a nevoid basal cell carcinoma syndrome. J Oral Med Oral Surg. 31, 5: https://doi.org/10.1051/mbcb/2024043.

All Tables

Table I

Diagnostic criteria for Gorlin-Goltz syndrome (or nevoid basal cell carcinoma. syndrome, NBCCS) [6].

In the text

All Figures

thumbnail Fig. 1

Dental panoramic with a cystic-like image sector 4.
In the text
thumbnail Fig. 2

Cystic-like lesion, next to the alveolar nerve, seen on Cone Beam, on a transversal (a), sagittal (b), 3D (c) plane.
In the text
thumbnail Fig. 3

(a) Drainage device in place; (b) Intracystic drain on scanner.
In the text
thumbnail Fig. 4

Vestibular swelling near tooth 75.
In the text
thumbnail Fig. 5

X ray, one year post-surgery.
In the text
thumbnail Fig. 6

X ray, 3 years post-surgery.
In the text

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