Issue |
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 |
Case Report
From the diagnosis of a mandibular cystic lesion to the surgical management of a case of a nevoid basal cell carcinoma syndrome
Centre Hospitalier Universitaire de Caen, Caen, France
* Corresponding author: khenifi21@gmail.com
Received:
26
August
2023
Accepted:
18
November
2024
Introduction: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary disease with autosomal dominant transmission. Multiple basal cell carcinomas, keratocysts located in the jaw, and developmental abnormalities are common clinical manifestations. Observation: The article reports the case of a 10-year-old patient addressed for the diagnostic and therapeutic management of a mandibular cystic lesion. Keratocysts can be the inaugural manifestation of Gorlin-Goltz syndrome. The originality of this case lies in the conservative approach adopted in this disease to treat a wide-ranging cystic lesion, using a cystic decompression method. Clinically, the patient had macrocephaly and hypertelorism, clinical signs frequently associated with Gorlin-Goltz syndrome, confirmed by the discovery of a mutation of the PTCH1 gene through genetic testing. Conclusion: This case highlights the importance of a multidisciplinary approach in the management of Gorlin-Goltz syndrome, by integrating innovative surgical techniques such as cystic decompression.
Key words: Goltz-Gorlin syndrome / keratocyst / marsupialisation
© The authors, 2025
This 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).
![]() |
Fig. 1 Dental panoramic with a cystic-like image sector 4. |
![]() |
Fig. 2 Cystic-like lesion, next to the alveolar nerve, seen on Cone Beam, on a transversal (a), sagittal (b), 3D (c) plane. |
![]() |
Fig. 3 (a) Drainage device in place; (b) Intracystic drain on scanner. |
![]() |
Fig. 4 Vestibular swelling near tooth 75. |
![]() |
Fig. 5 X ray, one year post-surgery. |
![]() |
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
- Lo Muzio FL. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32. [CrossRef] [PubMed] [Google Scholar]
- Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review: Gorlin syndrome. Pediatr Int 2014;56:667–674. [CrossRef] [PubMed] [Google Scholar]
- 3. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med 2004;6:530–539. [CrossRef] [PubMed] [Google Scholar]
- Satinoff MI, Wells C. Multiple basal cell naevus syndrome in ancient Egypt. Med Hist 1969;13:294–297. [CrossRef] [PubMed] [Google Scholar]
- 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. [Google Scholar]
- 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. [CrossRef] [PubMed] [Google Scholar]
- Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993;30:460–464. [CrossRef] [PubMed] [Google Scholar]
- Veenstra-Knol HE, Scheewe JH, van der Vlist GJ, van Doorn, Margreet ME, Ausems GEM. Early recognition of basal cell naevus syndrome. Eur J Pediatr 2005;164:126–130. [CrossRef] [PubMed] [Google Scholar]
- Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994;50:282–90. [CrossRef] [PubMed] [Google Scholar]
- Lench NJ, High AS, Markham AF, Hume WJ, Robinson PA. Investigation of chromosome 9q22.3-q31 DNA marker loss in odontogenic keratocysts. Eur J Cancer B Oral Oncol 1996;32:202–206. [CrossRef] [Google Scholar]
- Muzio LL, Nocini P, Bucci P, Pannone G, Consolo U, Procaccini M. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc 1999;130:669–674. [CrossRef] [PubMed] [Google Scholar]
- Ruprecht A, Austermann KH, Umstadt H. Cleft lip and palate, seldom seen features of the Gorlin-Goltz syndrome. Dentomaxillofacial Radiol 1987;16:99–103. [CrossRef] [PubMed] [Google Scholar]
- Soekarman D, Fryns JP, Casaer P, Van Den Berghe H. Increased head circumference and facial cleft as presenting signs of the nevoid basal-cell carcinoma syndrome. Genet Couns Geneva Switz 1991;2:157–162. [Google Scholar]
- Leonardi R, Sorge G, Caltabiano M. Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy. Br Dent J 2001;190:349–350. [CrossRef] [PubMed] [Google Scholar]
- Pejovic M, Stepic J, Markovic A, Dragovic M, Milicic B, Colic S. Retrospective study of spontaneous bone regeneration after decompression of large odontogenic cystic lesions in children. Vojnosanit Pregl 2016;73:129–134. [CrossRef] [PubMed] [Google Scholar]
- Bresler SC, Padwa BL, Granter SR. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol 2016;10:119–124. [CrossRef] [PubMed] [Google Scholar]
- Choi DS, Garagiola U, Kim SG. Current status of the surgery-first approach (part I): concepts and orthodontic protocols. Maxillofac Plast Reconstr Surg 2019;41:187–192. [Google Scholar]
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
All Figures
![]() |
Fig. 1 Dental panoramic with a cystic-like image sector 4. |
In the text |
![]() |
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 |
![]() |
Fig. 3 (a) Drainage device in place; (b) Intracystic drain on scanner. |
In the text |
![]() |
Fig. 4 Vestibular swelling near tooth 75. |
In the text |
![]() |
Fig. 5 X ray, one year post-surgery. |
In the text |
![]() |
Fig. 6 X ray, 3 years post-surgery. |
In the text |
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.