-
Pathology Oncology Research : POR 2024Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental...
Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental anomalies are present in approximately 30%-70% of patients with Gardner syndrome and can be discovered during routine dental examinations. However, sometimes the diagnosis is challenging due to the high clinical variability and incomplete clinical picture. Herein, we report a family with various dental and bone anomalies, in which the definitive diagnosis was established with the help of a comprehensive genetic analysis based on state-of-the-art next-generation sequencing technology. A 17-year-old female index patient presented with dental (caries, impacted, retained and anteriorly located teeth) and atypical bone anomalies not resembling Gardner syndrome. She was first referred to our Genetic Counselling Unit at the age of 11 due to an atypical bone abnormality identified by a panoramic X-ray. Tooth 3.6 was surgically removed and the histopathology report revealed a Paget's disease-like bone metabolic disorder with mixed osteoblastic and osteoclastic activity of the mandible. A small lumbar subcutaneous tumor was discovered by physical examination. Ultrasound examination of the tumor raised the possibility of a soft tissue propagation of chondromatosis. Her sister, 2 years younger at the age of 14, had some benign tumors (multiple exostoses, odontomas, epidermoid cysts) and impacted teeth. Their mother had also skeletal symptoms. Her lower teeth did not develop, the 9th-10th ribs were fused, and she complained of intermittent jaw pain. A cranial CT scan showed fibrous dysplasia on the cranial bones. Whole exome sequencing identified a heterozygous pathogenic nonsense mutation (c.4700C>G; p.Ser1567*) in the gene in the index patient's DNA. Targeted sequencing revealed the same variant in the DNA of the other affected family members (the sister and the mother). Early diagnosis of this rare, genetically determined syndrome is very important, because of the potentially high malignant transformation of intestinal polyps. Dentists should be familiar with the typical maxillofacial features of this disorder, to be able to refer patients to genetic counseling. Dental anomalies often precede the intestinal polyposis and facilitate the early diagnosis, thereby increasing the patients' chances of survival. Genetic analysis may be necessary in patients with atypical phenotypic signs.
Topics: Humans; Gardner Syndrome; Female; Adolescent; Genetic Testing; Tooth Abnormalities; Early Diagnosis; Pedigree
PubMed: 38807857
DOI: 10.3389/pore.2024.1611768 -
Diagnostics (Basel, Switzerland) Apr 2024Odontogenic tumors (OTs) are distinct conditions that develop in the jawbones, exhibiting diverse histopathological features and variable clinical behaviors....
UNLABELLED
Odontogenic tumors (OTs) are distinct conditions that develop in the jawbones, exhibiting diverse histopathological features and variable clinical behaviors. Unfortunately, the literature on this subject in Saudi Arabia remains sparse, indicating a pressing need for more comprehensive data concerning the frequency, demographics, treatment modalities, and outcomes of OTs.
OBJECTIVES
The study aims to evaluate the frequency, demographic features, treatment, and outcomes of OTs across three tertiary medical centers.
METHODS AND MATERIAL
OT cases were identified in King Abdulaziz Medical City (KAMC), King Fahad Medical City (KFMC), and Prince Sultan Military Medical City (PSMMC) from January 2010 to December 2021.
RESULTS
Ninety-two OT cases were identified from the anatomical pathology laboratories of three tertiary hospitals. KFMC contributed the highest number of cases (43.5%), followed by KAMC (30.4%) and PSMMC (26.1%). The median age of OT patients was 29 years (range: 5-83), with males representing more than half of the patients (56.5%). The mandible was the most frequent site of OT occurrence (72.5%), with ameloblastoma being the predominant OT (63.0%), followed by odontoma (19.5%). Among the treatment modalities, bone resection was employed the most (51.0%), followed by enucleation (25.6%). Notably, 11.5% of OT cases with available follow-up data exhibited recurrence, with ameloblastoma accounting for eight recurrent cases.
CONCLUSIONS
Although OTs are relatively common in the jaws, they are rare in anatomical pathology laboratories and the general population. This study contributes valuable insights into the epidemiology characteristics, treatment trends, and recurrence rates of OTs in Saudi Arabia.
PubMed: 38732324
DOI: 10.3390/diagnostics14090910 -
Heliyon Apr 2024Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with vascular lesions of the cerebral meninges, port wine spots on the face, and glaucoma of the eyes; it is a...
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with vascular lesions of the cerebral meninges, port wine spots on the face, and glaucoma of the eyes; it is a congenital, non-genetic disease whose etiology and mechanisms are unknown. In this report, we describe a rare case of SWS with unilateral large odontogenic tumors in the maxilla and mandible. The histopathological diagnosis of the maxillary bone lesion on biopsy was juvenile psammomatoid ossifying fibroma, which is considered a type of ossifying fibroma of craniofacial bone origin. However, the final pathological diagnosis of the excision was cemento-ossifying fibroma derived from periodontal ligament cells, and we discuss the histopathology in detail. In addition, the mandibular lesion was one of the largest odontomas reported to date. Furthermore, in this case, we suggest the possibility that the maxillary and mandibular bone lesions are not separate lesions, but a series of lesions related to SWS.
PubMed: 38660248
DOI: 10.1016/j.heliyon.2024.e29445 -
Cureus Mar 2024Benign 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...
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.
PubMed: 38618463
DOI: 10.7759/cureus.56230 -
Journal of Dental Sciences Apr 2024
PubMed: 38618059
DOI: 10.1016/j.jds.2024.02.006 -
International Journal of Clinical... Jan 2024The 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...
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.
PubMed: 38559850
DOI: 10.5005/jp-journals-10005-2735 -
Cureus Feb 2024Calcifying odontogenic cysts (COCs) exhibit a diverse clinical course, commonly developing between the second and third decades of life, displaying no gender...
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.
PubMed: 38523992
DOI: 10.7759/cureus.54679 -
Annals of Medicine and Surgery (2012) Mar 2024The total re-impaction of primary tooth is a very uncommon phenomenon and few cases have been reported in the literature. "Re-Impaction of deciduous tooth " is a rare...
INTRODUCTION AND IMPORTANCE
The total re-impaction of primary tooth is a very uncommon phenomenon and few cases have been reported in the literature. "Re-Impaction of deciduous tooth " is a rare phenomena involving more often mixed denture than permanent dentition.
CASE PRESENTATION
A completely re-impacted deciduous tooth in an adult patient presented an occlusal tooth decay. The presence of the decay cavity indicated that this tooth had once been erupted. After the removal, the tooth anatomy confirmed that it was deciduous tooth.
CLINICAL DISCUSSION
The etiologies remain diverse but the local contributing factors local factors include odontomas, ankylosis, congenitally missing permanent teeth, trauma. The early diagnosis by knowledge of the clinical and radiological image of re-impaction allows early detection, which in turn prevents subsequent complications.
CONCLUSION
The clinicians must be aware that late discovery managing re-impacted and severely infraoccluded deciduous tooth is in risk of causing permanent injury.
PubMed: 38463131
DOI: 10.1097/MS9.0000000000001685 -
Cureus Jan 2024Odontomas 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,...
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.
PubMed: 38389639
DOI: 10.7759/cureus.52785 -
Cureus Jan 2024Noonan 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...
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.
PubMed: 38384613
DOI: 10.7759/cureus.52699