Developing Odontoma in the Mandible of an Eight-Year-Old Boy.

Benign mixed odontogenic tumors have been repeatedly classified and reclassified over the past few decades. Odontoma is considered a hamartoma due to its slow growth and non-aggressive nature. We present an interesting case of developing odontoma in an eight-year-old boy. His complaint was a slow-growing swelling in the lower right back tooth region. Clinical examination revealed a carious deciduous second molar. The orthopantomogram revealed a well-defined radiolucency around the unerupted mandibular first premolar and impacted mandibular second premolar. Histopathology revealed an odontogenic epithelial lining overlying myxofibrous stroma with inflammatory cells and calcified structures with few odontogenic rests. Special staining methods including Van Gieson and modified Gallego stains led to the final diagnosis of a developing odontoma.

Olfactory bulb anomalies in KBG syndrome mouse model and patients.

ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we show a novel olfactory bulb phenotype in a KBG syndrome mouse model and two diagnosed patients. Conditional knockout of Ankrd11 in murine embryonic neural stem cells leads to aberrant postnatal olfactory bulb development and reduced size due to reduction of the olfactory bulb granule cell layer. We further show that the rostral migratory stream has incomplete migration of neuroblasts, reduced cell proliferation as well as aberrant differentiation of neurons. This leads to reduced neuroblasts and neurons in the olfactory bulb granule cell layer. In vitro, Ankrd11-deficient neural stem cells from the postnatal subventricular zone display reduced migration, proliferation, and neurogenesis. Finally, we describe two clinically and molecularly confirmed KBG syndrome patients with anosmia and olfactory bulb and groove hypo-dysgenesis/agenesis. Our report provides evidence that Ankrd11 is a novel regulator of olfactory bulb development and neuroblast migration. Moreover, our study highlights a novel clinical sign of KBG syndrome linked to ANKRD11 perturbations in mice and humans.

The Enigma Unveiled: Expansile Compound-complex Odontoma in the Anterior Maxilla of a Teenager.

Aim and objective: The objective of this case report is to offer insight into an expansive compound-complex odontoma located in the anterior maxilla of a 15-year-old male. The focus is placed on the importance of early detection and the progressive comprehension of odontomas. Background: Odontomas are common odontogenic lesions that are frequently discovered during examinations for delayed tooth eruption. There are two distinct classifications for odontomas-compound odontomas and complex odontomas. With its own each set of characteristics. A timely diagnosis is critical for avoiding complications. Case description: A male individual aged 15 years exhibited an expansive compound-complex odontoma located in the anterior maxilla. The clinical examination showed delayed tooth eruption and asymptomatic swelling. The radiographic images showed a radiopaque mass with tooth-like structures and radiolucent borders affecting the surrounding dentition. A surgical excision procedure was conducted, followed by a subsequent histopathological examination confirming the diagnosis of compound-complex odontoma. The patient continued orthodontic treatment after a 1-year follow-up without recurrence. Clinical significance: This case emphasizes the importance of regular dental exams in detecting odontomas early. This observation also highlights the growing understanding of odontomas as hamartomatous odontogenic malformations and the challenges of diagnosing them clinically. Additional molecular investigations are required to facilitate the classification and elucidation of genetic factors. How to cite this article: Alhazmi YA. The Enigma Unveiled: Expansile Compound-complex Odontoma in the Anterior Maxilla of a Teenager. Int J Clin Pediatr Dent 2024;17(1):82-85.

Unusual Association of Calcifying Cystic Odontogenic Tumor with Compound Odontoma and Ameloblastoma: Case Report and Review of the Literature.

Calcifying cystic odontogenic tumor (CCOT) is a rare odontogenic cyst accounts for <2% of all odontogenic cysts. Simple unicystic CCOT is commonly encountered accounts for 65%, whereas other forms of CCOT are <3%. CCOT is associated with two or more odontogenic tumors, it is called combined odontogenic lesions or hybrid lesions. The aim of the present article is to report a rare case of CCOT and highlighting the clinical feature and treatment aspects of combined lesions. A 25-year-old female complained of pain and swelling in the left maxilla for 6 months. Examination revealed diffuse swelling in the maxilla, firm in consistency, and tender on palpation. Panoramic radiograph showed impacted canine with multiple radiopaque structures and well-defined lesion in the maxillary sinus. The lesion was surgically removed and histopathologically diagnosed as CCOT with compound odontoma and ameloblastoma. Pub Med database search from 1978 to June 2020 revealed only three case reports of combined odontogenic tumors associated with CCOT.

A Calcifying Odontogenic Cyst With Compound Odontoma in the Maxillary Sinus: A Case Report in a Pediatric Patient.

Calcifying odontogenic cysts (COCs) exhibit a diverse clinical course, commonly developing between the second and third decades of life, displaying no gender predilection. A 15-year-old female without medical history was under observation for a mixed lesion in the maxilla associated with an impacted tooth. She presented to the emergency department with sudden onset and worsening swelling of the left midface. Radiographic findings in the panoramic radiograph and a CT scan revealed a well-circumscribed mixed lesion localized in the left maxilla, extending into the left maxillary sinus and reaching the orbital floor. After an intercurrent infection of the cyst, the patient was hospitalized, received intravenous antibiotics, and went for surgical intervention under general anesthesia. Lesions that combine histological characteristics of two or more odontogenic tumors or individual cysts in the same location are called hybrid odontogenic lesions. This type of lesion poses a challenge for both pathologists and surgeons, because of its controversial histogenesis and poorly understood clinical evolution. The most common of these lesions are COCs associated with odontoma. Our case represents an exceptionally rare entity among odontogenic cysts.

"Examining the link between tooth agenesis and papillary thyroid cancer: is there a risk factor?" Observational study.

BACKGROUND: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease. MATERIALS AND METHODS: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age. RESULTS: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC. CONCLUSION: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.

Reticular Myxoid Odontogenic Neoplasm with Novel STRN::ALK Fusion: Report of 2 Cases in 3-Year-Old Males.

Odontogenic tumors represent a collection of entities ranging from hamartomas to destructive benign and malignant neoplasms. Occasionally, pathologists encounter gnathic lesions which clearly exhibit an odontogenic origin but do not fit within the confines of established diagnoses. Here, we describe two such odontogenic tumors, both affecting 3-year-old males. Each case presented as a destructive, radiolucent mandibular lesion composed of mesenchymal cells, some with unique multi-lobed nuclei, frequently arranged in a reticular pattern and supported by a myxoid stroma with focal laminations. Production of odontogenic hard tissues was also seen. Because of their unique microscopic features, both cases were investigated by next-generation sequencing and found to harbor the same STRN::ALK oncogene fusion. To our knowledge, these cases represent the first report of an odontogenic tumor with a STRN::ALK gene rearrangement. We propose the possibility that this neoplasm could be separate from other known odontogenic tumors. Both patients were treated with surgical resection and reconstruction. The prognosis of patients with this entity is currently uncertain but shall become more apparent over time as more cases are identified and followed.

Clinical analysis of nonsyndromic oligodontia phenotypes.

OBJECTIVES: To provide references, this study investigated the clinical characteristics of patients with nonsyndromic oligodontia. METHODS: The information of 178 patients with oligodontia was collected, including histories, oral examinations, and panoramic radiographs. Tooth agenesis characteristics were calculated and evaluated. All the data were statistically analyzed with SPSS 24.0 software. RESULTS: No significant difference in the number of missing teeth was found between sexes nor between the right and left sides, and congenitally missing teeth affected the maxillary arch (P<0.05). The highest prevalence of tooth agenesis was observed in the mandibular second premolars. In the maxillary arch, the most common pattern of tooth agenesis was agenesis of the bilateral first and second premolars. The agenesis of the bilateral second premolars was observed in the mandibular arch. The prevalence of a symmetric pattern between the right and left quadrants was significantly higher than that of matched patterns between the maxillary and mandibular antagonistic quadrants. Approximately 16.85% of patients with nonsyndromic oligodontia were affected by other tooth-related anomalies. CONCLUSIONS: The common patterns of tooth agenesis were successfully identified in patients with nonsyndromic oligodontia. Dentists need to provide multidisciplinary treatments for patients with nonsyndromic oligodontia because of variations in occluding and full-mouth tooth agenesis patterns.

Maxillary Odontoma Associated With Noonan Syndrome: A Case Report.

Noonan syndrome (NS) is a common congenital syndrome characterized by multiple anomalies commonly observed in children. In this article, we describe a case of a patient with congenital heart disease, severe mitral regurgitation, and Nonaan syndrome presented with left maxillary swelling and pain, which was treated by complete surgical excision of the left maxillary odontoma. Based on this case, we conclude that numerous oral abnormalities may be related to NS and thus necessitate interdisciplinary treatment planning and prompt therapy. The importance of including oral manifestations as a scoring criterion in diagnosing NS cannot be overstated, as the significance of oral findings in NS has largely been overlooked.

Unveiling the Mysteries of a Composite Compound Odontoma: Insights From the Management of a Rare Entity.

Odontomas are one of the slow-growing odontogenic tumors. They are not a true neoplasm and are considered to be hamartoma. Odontomas consist of four distinct tissues, i.e., enamel, dentin, pulp, and cementum. Odontomas develop from fibroepithelial and undifferentiated mesenchymal cells which are essential for the development of the tooth. These are mostly asymptomatic and are incidentally detected on routine radiographic examination. This case report presents a unique case of a composite compound odontoma in an adult patient with flaring of teeth. A 28-year-old male patient reported to the Department of Dentistry for the correction of spacing in the upper front tooth region. Prompt diagnosis and management, including odontoma removal and aesthetic correction, were initiated. This case highlights the possibility of the presence of malformed tooth-like structures associated with flaring of teeth. It also focuses on the need for increased vigilance in individuals undergoing aesthetic correction procedures in the anterior maxillary region.

Developmental and Acquired Abnormalities of the Teeth.

This review aims to present a detailed analysis of the most common developmental and acquired dental abnormalities, including caries, resorptive lesions, and congenital anomalies of teeth number, size, form, and structure. This review highlights how diagnostic imaging can aid in the accurate identification and management of these conditions.

Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.

Goltz-Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog-Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz-Gorlin syndrome.

[Three-dimensional radiographic features of calcifying odontogenic cyst and calcifying epithelial odontogenic tumor].

OBJECTIVE: To analyze the three-dimensional radiographic characteristics of calcifying odontogenic cyst and calcifying epithelial odontogenic tumor using spiral computed tomography (CT) and cone-beam computed tomography (CBCT). METHODS: Clinical records, histopathological reports, and CBCT or non-enhanced spiral CT images of 19 consecutive patients with calcifying odontogenic cyst (COC) and 16 consecutive patients with calcifying epithelial odontogenic tumor (CEOT) were retrospectively acquired, and radiographic features, including location, size, expansion, internal structure and calcification, were analyzed. RESULTS: Among the 19 COC cases (12 males and 7 females, with an average age of 27 years), 89.5% (17/19) of the lesions originated from the anterior and premolar areas, 100.0% of them exhibited cortex expansion, and 78.9% had discontinued cortex. Among the 16 CEOT cases (3 males and 13 females, with an average age of 36 years), 81.3% (13/16) of the lesions were in the premolar and molar areas, 56.3% of them exhibited cortex expansion, and 96.8% had discontinued cortex. According to the distribution of internal calcifications, these lesions were divided into: Ⅰ (non-calcification type): absence of calcification; Ⅱ (eccentric marginal type): multiple calcifications scattered along one side of the lesion; Ⅲ (diffused type): numerous calcifications diffusely distributed into the lesion; Ⅳ (plaque type): with a ≥ 5 mm calcified patch; Ⅴ (peri-coronal type): multiple calcifications clustered around impacted teeth. Calcifications were present in 73.7% of COC lesions, including 9 type Ⅱ, 3 type Ⅲ and 2 type Ⅳ lesions, and 42.8% of CEOT lesions had calcification images, including 2 type Ⅲ and 5 type Ⅴ lesions. Six COC lesions had odontoma-like images. Moreover, 8 of 9 type Ⅰ CEOTs were histologically Langerhans cell-rich subtype, which had a smaller size (with an average mesiodistal diameter of 17.8 mm) and were not associated with impacted teeth. CONCLUSION: COC lesions tended to originate from the anterior part of the jaw and exhibit cortex expansion, and were sometimes associated with odontoma. CEOT commonly occurred in the posterior jaw and had discontinued cortex. Two lesions had significantly different calcification map. Over 70% of COC lesions had calcification images, which were mostly scattered along one side of the cysts, far from the impacted teeth. Approximately 60% of CEOT lesions exhibited smaller size and non-calcification, and the remaining CEOT cases often had calcification images clustered around the impacted teeth.

Immunohistochemical expression of beta-catenin, BMP4 and TGF-beta in odontomas.

Changes in the expression of nuclear ß-catenin are responsible for tumorigenesis. Beta-catenin acts synergistically with the TGF-ß/BMPs pathway. This interaction leads to greater dentin deposition and may explain the differences between distinct tooth morphologies and hamartomas. The aim of this study was to investigate the role of ß-catenin, BMP4 and TGF-ß in the development of odontomas. This cross-sectional, retrospective, immunohistochemical study evaluated 30 compound odontomas, 30 complex odontomas and 17 tooth germs. The results showed that BMP4 and TGF-ß were more immunoexpressed in the ectomesenchyme of complex odontomas (median = 33.7, p < 0.001; median = 76.4, p = 0.002, respectively). Higher immunoexpression of BMP4 and TGF-ß was also observed in the epithelium of tooth germs (median = 2.0, p < 0.001; median = 120.3, p < 0.001, respectively). TGF-ß and BMP4 showed a positive and significant correlation (p < 0.001). Both TGF-ß and BMP4 were positively correlated with nuclear ß-catenin in ectomesenchyme (p = 0.047 and p = 0.023, respectively). Developing teeth exhibited higher concentrations of the proteins studied in odontogenic epithelium, especially during the bud and cap stages. Higher immunoexpression in odontomas occurred mainly in the ectomesenchyme. We therefore suggest that changes in the ectomesenchyme can lead to the development of odontomas.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi-/- mutant model recapitulates most KTS symptoms. Mutants displayed pentylenetetrazol-induced seizures, confirming epilepsy susceptibility. Spontaneous locomotion and circadian activity tests demonstrate Rogdi mutant hyperactivity mirroring patient spasticity. Object recognition impairment indicates memory deficits. Rogdi-/- mutant enamel was markedly less mature. Scanning electron microscopy confirmed its hypomineralized/hypomature crystallization, as well as its low mineral content. Transcriptomic RNA sequencing of postnatal day 5 lower incisors showed downregulated enamel matrix proteins Enam, Amelx, and Ambn. Enamel crystallization appears highly pH-dependent, cycling between an acidic and neutral pH during enamel maturation. Rogdi-/- teeth exhibit no signs of cyclic dental acidification. Additionally, expression changes in Wdr72, Slc9a3r2, and Atp6v0c were identified as potential contributors to these tooth acidification abnormalities. These proteins interact through the acidifying V-ATPase complex. Here, we present the Rogdi-/- mutant as a novel model to partially decipher KTS pathophysiology. Rogdi-/- mutant defects in acidification might explain the unusual combination of enamel and rare neurological disease symptoms.

Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.

Despite the advances in high-throughput sequencing, many rare disease patients remain undiagnosed. In particular, the patients with well-defined clinical phenotypes and established clinical diagnosis, yet missing or partial genetic diagnosis, may hold a clue to more complex genetic mechanisms of a disease that could be missed by available clinical tests. Here, we report a patient with a clinical diagnosis of Tuberous sclerosis, combined with unusual secondary features, but negative clinical tests including TSC1 and TSC2 Short-read whole-genome sequencing combined with advanced bioinformatics analyses were successful in uncovering a de novo pericentric 87-Mb inversion with breakpoints in TSC2 and ANKRD11, which explains the TSC clinical diagnosis, and confirms a second underlying monogenic disorder, KBG syndrome. Our findings illustrate how complex variants, such as large inversions, may be missed by clinical tests and further highlight the importance of well-defined clinical diagnoses in uncovering complex molecular mechanisms of a disease, such as complex variants and "double trouble" effects.