International Journal of Surgery Case Reports 114 (2024) 109156

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International Journal of Surgery Case Reports

journal homepage: www.elsevier.com/locate/ijscr

Case report

Multiple dentigerous cysts in a patient showing features of Gorlin-Goltz

syndrome: A case report
Mohammad H Al-Shayyab a, Ra’ed Hisham Aldweik a, *, Mohammad Alzyoud b, Aya Qteish b
a
Department of Oral and Maxillofacial Surgery, Oral Medicine and Periodontology, School of Dentistry, The University of Jordan, Amman 11942, Jordan
b
Department of Pathology, School of Medicine, the University of Jordan, Amman 11942, Jordan

A R T I C L E I N F O A B S T R A C T

Keywords: Introduction and importance: The association between Dentigerous cysts (DCs) and Gorlin-Goltz syndrome (GGS)
Gorlin-Goltz syndrome was claimed theoretically in a very few reports, with very few clinical foundations. The aim of this report was to
Dentigerous cyst present a unique case of multiple DCs in the mandible in a patient showing features of GGS.
Third molar
Case presentation: A 63-year-old male patient presented with multiple cyst-like lesions in the mandible associated
Case report
with some clinical and radiological features of GGS, and that raised the suspension of odontogenic keratocyst
(OKC). The patient underwent marsupialization and enucleation of these cysts, and the histopathological ex­
amination confirmed the diagnosis of DCs.
Clinical discussion: In this report, the patient presented with symptoms related to multiple unilocular radiolucent
lesions found in the mandible and the clinical and radiological features were highly suggestive of OKCs asso­
ciated with GGS. However, the perioperative findings raised the suspicion of DCs, which was confirmed by
histopathology. Interestingly, GGS is an inherited autosomal dominant disorder arising from mutations in the
patched tumor suppressor gene (PTCH). Previous studies showed this gene alteration in DCs; this can possibly be
implicated in the pathogenesis of the association found in this report.
Conclusion: This report presented a case of bilateral DC in the mandible in a patient showing features of GGS.
Therefore, this report verified the very rare association between DC and GGS. This may help dentists and phy­
sicians in reaching an accurate and early diagnosis of GGS.

1. Introduction
Gorlin-Goltz syndrome (GGS) is a rare multisystem disorder first
described by Gorlin and Goltz in 1960. Its incidence is estimated to be
around 1 in 50,000 to 1 in 150,000 in the general population, with
regional variations. The current diagnostic criteria for GGS involve a
combination of major and minor criteria [1,2]. Major criteria contain
the prevalent lesions such as multiple basal cell carcinomas, OKCs, and
skeletal anomalies. On the other hand, minor criteria include less
frequent manifestations like bone cysts in the hands, vertebral alter­
ations and macrocephaly [3].
The DC appears radiographically as a well-defined unilocular
radiolucency, with an impacted tooth that sometimes resembles the
radiological features of OKC [4,5]. Clinical reports verified the possible
association between this cyst and number of syndromes including clei­
docranial dysplasia and Maroteaux-Lamy syndrome [6].
The association between DCs and GGS has been claimed in scanty
literature [7]. To the best of the authors’ knowledge, this association
was reported in few published clinical cases [3,8–10]. Therefore, the
aim of this report was to present a unique case of multiple DCs observed
in a patient showing features of GGS. This presentation may help in
verification of this association.
The work of this report has been reported in line with the SCARE
criteria [11].
2. Case presentation
A 63-year-old male patient with history of hypertension, hyperthy­
roidism and radioactive iodine exposure, presented to the Emergency
Department at JUH in September 2022 as a case of right buccal swelling
associated with pain and limitation of mouth opening with two-day
duration. Orthopantomograph (OPG) and computed tomography (CT)

* Corresponding author at: Resident in Oral and Maxillofacial Surgery-Jordan University Hospital, School of Dentistry-The University of Jordan, Amman 11942,
Jordan.
E-mail address: raed.dweik@yahoo.com (R.H. Aldweik).

https://doi.org/10.1016/j.ijscr.2023.109156
Received 20 October 2023; Received in revised form 22 November 2023; Accepted 2 December 2023
Available online 13 December 2023
2210-2612/© 2023 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. This is an open access article under the CC BY license
(http://creativecommons.org/licenses/by/4.0/).
M.H. Al-Shayyab et al.
were ordered and showed three cyst-like lesions. In addition, the CT scan
also showed adjacent inflammatory changes and the diagnosis was right
buccal space infection related to an infected cystic lesion. The patient
was vitally stable and discharged home on oral antibiotics and analgesia.
One week later, a cone beam computed tomography (CBCT) were taken
to further evaluate the three lesions: the larger one was in the right side
and showed unilocular radiolucency measuring 6 × 1 × 2.5 cm, and was
associated with the impacted right third molar; the left side contained
two lesions, one above the ID canal measuring 1.5 × 0.7 × 1 cm and was
associated with the lower left wisdom tooth, and the other one was
below the ID canal measuring 1.5 × 0.5 × 1.6 cm and diagnosed as
Stafne’s bone cyst (SBC), as it was asymptomatic and appeared to
housing an accessory part of the submandibular gland (Fig. 1).
The multiple cyst-like lesions on the jaw raised the suspicion of GGS,
so that a thorough clinical and radiological examination done; in addi­
tion to the CT scan and the CBCT, a chest X-ray reported no bifid ribs or
calcified falx cerebri. However, multiple facial dermal calcinoses were
noticed on the CT scan. In addition, some clinical features were noticed
like palmer and planter pits (Fig. 2a, b), and multiple benign dermal
cysts, with no features or history of basal cell carcinoma (BCC). There­
fore, GGS was then considered and OKC was the provisional diagnosis
for the lesions located above the ID canals, which were planned for
management under general anesthesia (GA). Perioperatively, aspiration
of both cysts showed a straw colored fluid, the left cyst underwent
enucleation and extraction of the involved third molar, and the right one
underwent incisional biopsy and extraction of the involved third molar
tooth and marsupialization by suturing the cystic lining to the oral
mucosa. A decompression tube was then inserted and fixed to the
adjacent molar tooth. Unexpectingly, the histopathological examination
of the specimens of both lesions showed thick lining and revealed
multiple fragments of fibrous connective tissue lined by hyperplastic
none-keratinized squamous epithelium with focal neutrophilic infiltra­
tion. The cyst wall was infiltrated by mixed inflammatory cells
composed of neutrophils, lymphocytes and plasma cells, with rare
microcalcifications seen in the left cyst. Occasional mucous cells were
seen in the lining epithelium of the left cyst. No parakeratosis or keratin
flakes were found in both cysts (Fig. 3). Therefore, a definitive diagnosis
of DC was confirmed.
Eleven months later, the OPG and CBCT showed good bony filling of
the lesions with small remaining radiolucency measuring 4.5 × 0.7 ×
1.1 cm (Fig. 4) in the marsupialized lesion, which was then enucleated
and the histopathology report again confirmed the diagnosis of DC
(Fig. 5).
Fig. 1. Reconstructed orthopantomograph from the patient’s Cone Beam Computed Tomography showing three cyst-like lesions.
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International Journal of Surgery Case Reports 114 (2024) 109156
3. Discussion
GGS is an inherited autosomal dominant disorder. This condition
exhibits high penetrance and varying levels of phenotypic expressivity.
In 1960, Gorlin and Goltz initially described the syndrome by three
primary characteristics: the presence of multiple BCCs, OKCs, and
skeletal abnormalities [3].
Unilocular radiolucency in the mandible includes many differential
diagnoses like OKC, DC, ameloblastoma, simple bone cyst, giant cell
granuloma and others [12]. However, the well-defined non-corticated
margins, the location, the uniform and multiple presentation of the
lesion, and the nature of the internal bony septa were all suggestive of a
cystic nature, most commonly OKC and DC, of the lesion presented
herein instead of the tumors or the simple bone cyst included in the
differential diagnosis [12]. OKCs are benign jaw tumors and tend to
occur as unilocular radiolucent lesions when small, while larger lesions
tend to be multilocular extended mesiodistally with minimal medio­
lateral bone expansion. Their lining is thin stratified parakeratinized
epithelium and usually associated with an impacted tooth. On aspira­
tion, a creamy cheese-like material and keratin or keratin-like smell are
commonly observed. Multiple lesions occurring in more than one jaw
quadrant are highly suggestive of GGS [12,13]. In contrast, DCs occur
due to the accumulation of fluid between the crown of an unerupted
tooth and reduced enamel epithelium [14]. On radiographs, they appear
as unilocular well-defined radiolucent lesions around an unerupted
tooth crown, not characteristically extended or expanded in any direc­
tion [12]. The lining of the cyst is thick non-keratinized stratified
squamous epithelium resembling reduced enamel epithelium, with a
fibrous wall surrounding the lining from outer side with an inflamma­
tory infiltrate in this fibrous area. On aspiration, straw-colored fluid is
commonly observed [15]. In this report, the patient presented with
symptoms related to multiple unilocular radiolucent lesions and the
clinical and radiological features, particularly the mesiodistal extension
of the right cystic lesion, were highly suggestive of OKCs commonly
associated with GGS. However, the perioperative findings of thick lining
and the straw colored aspirate raised the suspicion of DCs, which was
confirmed by histopathology. Therefore, the similar clinical and radio­
logical features of both OKC and DC sometimes make the final diagnosis
to base on the histopathological features [16].
Bilateral and multiple DCs have been claimed theoretically to occur
in association with GGS in the literature [7]. However, only four pub­
lished case reports regarding this association were identified in the
English literature: the first was published by Cawson et al. [8], in 1964,
who presented three cases of GGS associated with DCs. However, the
M.H. Al-Shayyab et al.
Fig. 2. a Multiple palmer pits.
b Multiple planter pits.
Fig. 3. (A and B): Cyst wall lined by hyperplastic squamous epithelium, H&E, (4× and 20×), (C): The cyst wall is infiltrated by neutrophils, lymphocytes and plasma
cells, H&E, (40×).
authors stated that cysts were apparently DCs based on confusing his­
topathological features with OKC; the second was published by Naka­
jima et al. [9], in 1977, but the authors used the term ‘dentigerous
keratocyst’, which was never used before and thereby, was misleading;
the third report was published by Anehosur et al. [10], in 2009, in which
the patient diagnosed with multiple cysts including DCs and OKCs; the
fourth report was published by Senayr et al. [3], in 2021, in which the
authors stated that the lesion initially diagnosed in their report as an
infected DC was possibly OKC. Therefore, this report presented a unique
case that verified the very rare association between GGS and multiple
DCs. Interestingly, a clinical diagnosis of GGS can be established when
there are either two major criteria or one major and two minor criteria
[3]. DCs were suggested as part of the minor criteria for diagnosis of GGS
[3]. In this report, the patient had palmer and planter pitting (major),
dermal calcinosis (minor) and multiple DCs (minor), so that the patient
was diagnosed by having one major and two minor criteria.
Recently, the gene for GGS was cloned and shown to be the human
homologue of the Drosophila segment polarity gene Patched (PTCH), a
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International Journal of Surgery Case Reports 114 (2024) 109156
tumor suppressor gene. The PTCH gene encodes a transmembrane pro­
tein that acts in opposition to the Hedgehog signaling protein, control­
ling cell fates, patterning, and growth in numerous tissues, including
teeth. This mutation that can affect the developing dental tissues may
explain the mechanism of occurrence of OKC in association with this
syndrome [17]. Other studies [18] also showed PTCH gene alteration in
DCs and that can possibly explain the association between these cysts
and the GGS found in this report.
4. Conclusion
This report presented a unique case of bilateral DCs and a SBC in the
mandible in a patient showing features of GGS. Cystic lesions in GGS
need to be diagnosed by assessing their radiographic appearances, the
contents obtained on aspiration, and by evaluating the consistency of
the cystic lining and its contents upon surgical exposure and finally by
histopathological examination. Verification of this very rare association
between GGS and DCs may enrich the literature, and guide physicians
M.H. Al-Shayyab et al.
Fig. 4. Follow up radiograph after 10 months showing decreasing in the cystic size with bony filling and the decompression tube.
Fig. 5. (A and B): Cyst wall lined by stratified squamous epithelium with occasional mucous cells, H&E, (4× and 20×). (C): Microcalcification, H&E, (10×).
and dentists to an accurate and early diagnosis of GGS.
Consent for publication
A written consent was obtained from the patient to publish this case
report.
Ethical approval
Ethical approval was deemed unnecessary by our institutional
ethical committee, as the paper is reporting a single case that emerged
during normal practice.
Funding
No funding was received to assist with the preparation of this
manuscript.
CRediT authorship contribution statement
Mohammad H Al-Shayyab: supervision, conception and design of the
study, final approval of the final draft. Ra’ed Hisham Aldweik: acqui­
sition of data, investigations necessary for the report, drafting the
article. Mohammad Alzyoud and Aya Qteish: acquisition of data, in­
vestigations, in particular histopathological examination and interpre­
tation necessary for the report. All authors read and approved the final
manuscript.
4
International Journal of Surgery Case Reports 114 (2024) 109156
Guarantor
Mohammad H Al-Shayyab.
Research registration number
1. Name of the registry: not applicable
2. Unique identifying number or registration ID: not applicable
3. Hyperlink to your specific registration (must be publicly accessible
and will be checked): not applicable
Declaration of competing interest
The authors declare that they have no known competing financial
interests or personal relationships that could have appeared to influence
the work reported in this paper.
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