Search Results (16)

Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the PTCH1 gene, which regulates the Hedgehog signaling pathway. This genetic defect leads to the uncontrolled proliferation of basal cells, resulting in the formation of multiple basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs). This study aims to present a complex clinical case of a patient with Gorlin–Goltz syndrome who developed multiple recurrent metastatic basal cell carcinomas on the facial region, detailing the multidisciplinary treatment strategies employed and the challenges encountered during the management of the disease. The patient, diagnosed with a pathogenic PTCH1 gene mutation, underwent a series of treatment interventions over several years. These included multiple surgical excisions aimed at tumor removal, diverse radiotherapy approaches for residual or inoperable lesions, and systemic targeted therapy with Hedgehog pathway inhibitors to control tumor progression. The recurrent and aggressive nature of the basal cell carcinomas resulted in extensive facial tissue loss, posing significant challenges for radical tumor excision and subsequent reconstructive procedures. Multimodal therapeutic strategies, including Mohs micrographic surgery for precise tumor clearance and targeted systemic therapy with vismodegib, were implemented. However, the aggressive progression of lesions required ongoing surgical interventions, highlighting the limitations of current treatment modalities in achieving long-term disease control. This case underscores the critical need for a comprehensive, multidisciplinary approach to managing Gorlin–Goltz syndrome. Successful management requires close collaboration between dermatologists, oncologists, maxillofacial surgeons, and plastic surgeons to balance effective tumor control with optimal functional and aesthetic outcomes. The integration of advanced surgical techniques and targeted molecular therapies shows promise in improving patient outcomes. Nonetheless, early diagnosis, rigorous follow-up, and patient education remain essential components in minimizing disease progression and enhancing the quality of life for affected individuals. Full article

Background and Clinical Significance: Basal cell nevoid carcinoma syndrome, or Gorlin–Goltz Syndrome (GGS), is a genetic disease caused by germline mutations in genes involved in the Sonic HedgeHog (SHH) signaling pathway, mainly in the PTCH1 gene. PTCH1 is a receptor for SHH, and the activation of SHH signaling exerts a direct effect on the proliferation and maintenance of stem cells; alteration of its signaling could promote a favorable microenvironment for the maintenance of tumor viability. The main clinical manifestations of patients with GGS include multiple basal cell carcinomas, odontogenic keratocysts, calcification of the falx cerebri, palmoplantar fossae, hypertelorism, prognathism, fused or bifid ribs, and macrocephaly, which occur at different stages of life. Case Presentation: Here, the case of a 48-year-old woman is described, for whom a clinical and histopathological diagnosis of GGS was made due to the presence of two major criteria (multiple odontogenic keratocysts and calcification of the falx cerebri) and one minor criterion (congenital anomalies), according to Kimonis. Additionally, an end-point RT-PCR assay showed a decrease in PTCH1 gene expression. A conservative therapy was established, and satisfactory results were obtained in a follow-up period of 18 months. Conclusions: Kimonis' clinical criteria are important for establishing the diagnosis of Gorlin syndrome. Full article

Odontogenic keratocyst (OK) is a benign intraosseous cystic lesion characterized by a parakeratinized stratified squamous epithelial lining with palisade basal cells. It represents 10–12% of odontogenic cysts. The changes in its classification as a tumor or cyst have increased interest in its pathogenesis. Objective: Identify key genes in the pathogenesis of sporadic OK through in silico analysis. Materials and methods: The GSE38494 technical sheet on OK was analyzed using GEOR2. Their functional and canonical signaling pathways were enriched in the NIH-DAVID bioinformatic platform. The protein–protein interaction network was constructed by STRING and analyzed with Cytoscape-MCODE software v 3.8.2 (score > 4). Post-enrichment analysis was performed by Cytoscape-ClueGO. Results: A total of 768 differentially expressed genes (DEG) with a fold change (FC) greater than 2 and 469 DEG with an FC less than 2 were identified. In the post-enrichment analysis of upregulated genes, significance was observed in criteria related to the organization of the extracellular matrix, collagen fibers, and endodermal differentiation, while the downregulated genes were related to defensive response mechanisms against viruses and interferon-gamma activation. Conclusions. Our in silico analysis showed a significant relationship with mechanisms of extracellular matrix organization, interferon-gamma activation, and response to viral infections, which must be validated through molecular assays. Full article

Background: Stem cells have been associated with self-renewing and plasticity and have been investigated in various odontogenic lesions in association with their pathogenesis and biological behavior. We aim to provide a systematic review of stem cell markers’ expression in odontogenic tumors and cysts. Methods: The literature was searched through the MEDLINE/PubMed, EMBASE via OVID, Web of Science, and CINHAL via EBSCO databases for original studies evaluating stem cell markers’ expression in different odontogenic tumors/cysts, or an odontogenic disease group and a control group. The studies’ risk of bias (RoB) was assessed via a Joanna Briggs Institute Critical Appraisal Tool. Meta-analysis was conducted for markers evaluated in the same pair of odontogenic tumors/cysts in at least two studies. Results: 29 studies reported the expression of stem cell markers, e.g., SOX2, OCT4, NANOG, CD44, ALDH1, BMI1, and CD105, in various odontogenic lesions, through immunohistochemistry/immunofluorescence, polymerase chain reaction, flow cytometry, microarrays, and RNA-sequencing. Low, moderate, and high RoBs were observed in seven, nine, and thirteen studies, respectively. Meta-analysis revealed a remarkable discriminative ability of SOX2 for ameloblastic carcinomas or odontogenic keratocysts over ameloblastomas. Conclusion: Stem cells might be linked to the pathogenesis and clinical behavior of odontogenic pathologies and represent a potential target for future individualized therapies. Full article

The purpose of this study was to report a rare case of an odontogenic keratocyst occurring in the edentulous jaw area. A 64-year-old man presented with a painful swelling of the right posterior mandibular vestibule that prevented him from wearing a complete lower denture. Upon intraoral clinical examination, the patient was totally edentulous and had two removable complete dentures. He had a fistula in the vestibular mucosa of edentulous site 48 that was painful upon palpation. Radiological examination revealed an unilocular radiolucent lesion with a continuous peripheral sclerotic border, centered on both the mandibular angle and right branch. Differential diagnosis mainly included a residual cyst and an odontogenic cystic tumor. The biopsy and the excisional material allowed a diagnosis of an odontogenic keratocyst to be made, the cyst being lined by a uniform parakeratinized squamous epithelium, corrugated in places, showing intercellular edema in places, with a well differentiated basal cell layer ranging from cuboidal to columnar in shape, a relatively thin, inflammation-free fibrous wall, and a cyst lumen that contained varying amounts of desquamated keratin. In this case, the surgical risk was represented by paresthesia of both the inferior alveolar and the lingual nerves. The lesion was enucleated without any complications, and the follow-up after 1 year did not reveal any nerve functional damage. Our case underlines the importance for the clinicians to consider a keratocyst in the differential diagnosis of cyst-like lesions presenting in an edentulous area. Full article

Gorlin–Goltz syndrome (basal cell nevus syndromes) is an uncommon, autosomal dominant inherited disorder characterized by developing basal cell carcinomas from a young age. Other distinct clinical features include keratocystic odontogenic tumors, dyskeratotic palmar and plantar pitting, and skeletal abnormalities. Clinicopathological findings of the syndrome are very diverse, and many symptoms manifest during a certain period of life. We present the compelling whole-body bone scan and ¹⁸F-FDG PET/CT findings in a 32-year-old man with odontogenic keratocyst, early-onset basal cell carcinoma, multiple ectopic calcifications in extremities, calcified falx cerebri, spinal scoliosis, macrocephaly, and ocular hypertelorism. Full article

Oral cancer is a common malignancy worldwide, accounting for 1.9% to 3.5% of all malignant tumors. Transforming growth factor β (TGF-β), as one of the most important cytokines, is found to play complex and crucial roles in oral cancers. It may act in a pro-tumorigenic and tumor-suppressive manner; activities of the former include cell cycle progression inhibition, tumor microenvironment preparation, apoptosis promotion, stimulation of cancer cell invasion and metastasis, and suppression of immune surveillance. However, the triggering mechanisms of these distinct actions remain unclear. This review summarizes the molecular mechanisms of TGF-β signal transduction, focusing on oral squamous cell and salivary adenoid systemic carcinomas as well as keratocystic odontogenic tumors. Both the supporting and contrary evidence of the roles of TGF-β is discussed. Importantly, the TGF-β pathway has been the target of new drugs developed in the past decade, some having demonstrated promising therapeutic effects in clinical trials. Therefore, the achievements of TGF-β pathway-based therapeutics and their challenges are also assessed. The summarization and discussion of the updated knowledge of TGF-β signaling pathways will provide insight into the design of new strategies for oral cancer treatment, leading to an improvement in oral cancer outcomes. Full article

This study aimed at presenting a retrospective longitudinal analysis of the pediatric jaw lesions treated at the Oral and Maxillofacial Surgery Clinic in Cluj-Napoca, Romania, over a timeframe of ten years (2012 to 2022). The clinical and radiological characteristics of the jawbone lesions, the treatment outcome, and the recurrence incidence were described. All consecutive patients aged below 18 years, with histologically diagnosed odontogenic tumors (OTs), nonodontogenic tumors (non-OTs), or odontogenic cysts (OCs) were included. Age, dentition type, clinical symptoms, preoperative and postoperative radiological tests, histological diagnosis, treatment, and follow-up information one year following the diagnoses were all examined. Eighty-two cases were included. The ratio of men to women was 1.15:1, with the mandible predominating by 64.4%. Inflammatory radicular cysts predominated in 31.7% of cases. A total of 42.68% of the patients were asymptomatic. Enucleation was the most frequent surgical technique (45.1%), followed by cystectomies (28%) and marsupialization (14.6%). The overall recurrence rate was 7.3%; the most recurrent histopathological lesion was the odontogenic keratocyst. This study sheds new light on the clinical and radiological characteristics, treatment outcomes, and recurrence rate of juvenile jawbone lesions in children and adolescents. The diagnosis and treatment of jawbone lesions in children and adolescents can be enhanced with the use of epidemiological, clinical, and imagistic information. Full article

There are many cysts and tumors which might occur in the mandibular and maxillary bones. Their origin can be either odontogenic or non-odontogenic. One of the most common odontogenic cysts is the odontogenic keratocyst (OKC). Its nomenclature and classification have changed many times over years, from a tumor to, finally, a cyst. Nowadays, its treatment has not greatly changed, however, it is related to a potential recurrence rate more than any other cyst of odontogenic origins. OKC size, localization, and possible cortical expansion towards adjacent soft tissues might influence the scope of treatment and possible reoccurrence in time. Each case is quite individual, and after removal of the pathology in some cases there can be a necessity for either bone grafting or any other reconstruction method to restore proper bone continuity. The size and the placement of OKC might influence pathological fracture occurrence or inappropriate healing if the bone cavity after cyst removal is not properly treated. A good healing potential can be achieved with xenograft bone substitutes or allograft fresh–frozen bones. On rare occasions, a titanium plate is used to ensure mandibular stability. In the following case report, an atypical case of a large OKC treated with fresh–frozen bone grafts, supported with collagen barrier material in the anterior mandible with buccal cortical expansion, will be presented. Full article

Background: Carcinoma cuniculatum (CC) is a rare subtype of squamous cell carcinoma that is difficult to diagnose owing to the lack of cellar atypia and/or associated oral epithelial dysplasia. The prognosis is good given proper resection, but it often has a poor prognosis with recurrence. We present the case of a 78-year-old man who visited our department with an ulcer around the implant in tooth 35. With Nikolsky’s phenomenon in the gingiva, a detailed examination revealed pemphigus vulgaris. Steroid administration remarkably improved the oral symptoms but caused osteomyelitis and rapid bone destruction, leading to pathological fracture. After multiple biopsies, mandibular segment resection was performed with a diagnosis of mandibular osteomyelitis, and no malignant findings were found. Four months later, the wound reopened, a white keratinized lesion appeared, and a biopsy revealed CC. Unresectable tumor infiltration was already observed, but the patient died of aspiration pneumonia 15 months after diagnosis. Conclusions: It took 20 months to make a definitive diagnosis of CC in this case. Pemphigus vulgaris may have made the diagnosis particularly difficult. Since other CCs are often diagnosed with osteomyelitis or odontogenic keratocyst preoperatively, we recommend keeping in mind the possibility of CC in refractory cases. Full article

Odontogenic keratocyst (OKC) and ameloblastomas are distinct histopathologically diagnosed odontogenic lesions of the oral cavity. Both are primarily located in the posterior regions of the mandible, however, they can involve the maxilla as well. The occurrence of both an OKC and ameloblastoma in a patient is very uncommon. This case demonstrated such a lesion in the mandible of a 57 years old female. The diagnostic work-up and features of both lesions are illustrated with special focus on histopathological variances distinguishing OKC from ameloblastoma with the support of immunohistochemistry. This case highlights the importance of identifying accurate diagnoses for such lesions which may prompt clinical implications. Clinico-pathologic understanding of both lesions signifies the need for careful management plan and prevention of recurrence. Previously reported simultaneous occurrences of odontogenic cysts and/or tumors in the oral cavity are also reviewed. Full article

Patients with odontogenic cysts and tumors may have to undergo serious surgery unless the lesion is properly detected at the early stage. The purpose of this study is to evaluate the diagnostic performance of the real-time object detecting deep convolutional neural network You Only Look Once (YOLO) v2—a deep learning algorithm that can both detect and classify an object at the same time—on panoramic radiographs. In this study, 1602 lesions on panoramic radiographs taken from 2010 to 2019 at Yonsei University Dental Hospital were selected as a database. Images were classified and labeled into four categories: dentigerous cysts, odontogenic keratocyst, ameloblastoma, and no lesion. Comparative analysis among three groups (YOLO, oral and maxillofacial surgeons, and general practitioners) was done in terms of precision, recall, accuracy, and F1 score. While YOLO ranked highest among the three groups (precision = 0.707, recall = 0.680), the performance differences between the machine and clinicians were statistically insignificant. The results of this study indicate the usefulness of auto-detecting convolutional networks in certain pathology detection and thus morbidity prevention in the field of oral and maxillofacial surgery. Full article

The use of virtual surgical planning and computer-aided design/computer-aided manufacturing has previously been reported to enhance the planning for the reconstruction of mandibular continuity defects and to reduce surgical time. Reported is a case of a large keratocystic odontogenic tumor (KOT) affecting right hemimandible including the condylar neck. This case was initially reconstructed with a condyle-bearing reconstruction plate, but because of fatigue fracture 15 years later, a new reconstruction with a custom-made total joint temporomandibular prosthesis was performed. Full article

We present a family case series with 10 individuals having nevoid basal cell carcinoma syndrome (NBCCS) with a 10-year follow-up. All articles published in the literature between 1967 and 2011 on familial Gorlin-Goltz syndrome in any language were surveyed to determine the mapping of cases per country of occurrence of this disease. All patients in the present series were presented with calcification of the falx cerebri, mild hypertelorism, and frontal bossing. Odontogenic keratocystic tumors, palmar and plantar pits, and multiple basal cell carcinomas occurred in 90, 40, and 20%, respectively, of the patients. One of the patients died of skin cancer. Diagnosis of odontogenic keratocyst tumors was confirmed by histopathological examination. NBCCS is a rare autosomal dominant cancer predisposition syndrome; it is important to recognize it when a patient has multiple odontogenic keratocyst tumors because life-long monitoring is essential for patient management. Full article