-
Australian Dental Journal Mar 2018The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a...
The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a protocol-driven pathway is undertaken for the best patient care. Oral and maxillofacial surgeons contribute to surgical care in this setting with specific knowledge of growth and development of the face. This enables optimum timing for early skeletal correction where appropriate, and definitive surgery following the cessation of growth to maximize function and aesthetics. This chapter will describe the major principles in managing patients with specific craniofacial anomalies and provide examples of the outcomes possible.
Topics: Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Dentistry; Face; Facial Injuries; Female; Humans; Imaging, Three-Dimensional; Infant; Infant, Newborn; Jaw Neoplasms; Macroglossia; Male; Myxoma; Skull; Synostosis; Tomography, X-Ray Computed
PubMed: 29574817
DOI: 10.1111/adj.12591 -
The Pan African Medical Journal 2021Pleomorphic adenoma is a benign mixed tumor, which is composed of myoepithelial and epithelial cells. A fibrous capsule separates these cells from the surrounding...
Pleomorphic adenoma is a benign mixed tumor, which is composed of myoepithelial and epithelial cells. A fibrous capsule separates these cells from the surrounding tissues. Pleomorphic adenoma is the most common salivary gland tumour accounting for 40-70% of all major and minor salivary gland tumours. It is also the commonest minor salivary gland benign tumours accounting for 70% of all tumours. Hard palate is the commonest site followed by upper lip, buccal mucosa, tongue, floor of mouth, retromolar trigone. This case report discusses a case of pleomorphic adenoma of hard palate in an old man after complete excision of the tumour, which was confirmed by a biopsy specimen.
Topics: Adenoma, Pleomorphic; Adult; Humans; Male; Palatal Neoplasms; Palate, Hard
PubMed: 33912316
DOI: 10.11604/pamj.2021.38.146.26508 -
International Journal of Molecular... Oct 2021Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases),... (Review)
Review
Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2-1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms.
Topics: Adenoma; Cyclin-Dependent Kinase Inhibitor p27; Epigenesis, Genetic; Fibroma; Humans; Hyperparathyroidism; Hyperparathyroidism, Primary; Jaw Neoplasms; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2a; Mutation; Parathyroid Neoplasms; Proto-Oncogene Proteins; Tumor Suppressor Proteins
PubMed: 34681865
DOI: 10.3390/ijms222011206 -
Pathologie (Heidelberg, Germany) Jul 2023Maxillofacial tumours cover a broad spectrum of lesions, including neoplasms, hamartomatous changes and developmental disorders. Since the beginning of 2022, a beta... (Review)
Review
Maxillofacial tumours cover a broad spectrum of lesions, including neoplasms, hamartomatous changes and developmental disorders. Since the beginning of 2022, a beta version of the 5th edition of the WHO classification for head and neck tumours has been available online, and a print version is expected to be published in mid-2023. From a conceptual point of view, little has been changed compared to the 4th edition; the sort order of lesions is more rigorously arranged according to benign and malignant behaviour and identical tumour types are no longer described redundantly in different chapters depending on their location. The diagnostic criteria are now summarized as "essential" and "desirable", and in addition to the clinical features, imaging is now also incorporated, providing an interdisciplinary approach to the classification. A few new entities are included for the first time. This article gives an overview of the main changes introduced in the new WHO classification with a special emphasis on fibro-osseous lesions of the craniofacial skeleton.
Topics: Humans; World Health Organization; Head and Neck Neoplasms; Jaw Neoplasms; Bone and Bones; Hamartoma
PubMed: 37179260
DOI: 10.1007/s00292-023-01195-4 -
BMJ Case Reports Jun 2015Ameloblastic fibro-odontoma is a slow growing, benign, expansile epithelial odontogenic tumour with odontogenic mesenchyme, accounting for 0.3-1.7% of jaw tumours,...
Ameloblastic fibro-odontoma is a slow growing, benign, expansile epithelial odontogenic tumour with odontogenic mesenchyme, accounting for 0.3-1.7% of jaw tumours, signifying its rarity. The WHO defines it as "a neoplasm composed of proliferating odontogenic epithelium in a cellular ectomesenchymal tissue with varying degrees of inductive changes and dental hard tissue formation". We report a case of an 11-year-old girl who presented to the Department of Maxillo-Facial Medicine and Radiology for the evaluation of a swelling in the left posterior mandible. Her clinical chart and investigations unveiled it as ameloblastic fibro-odontoma. After a promising presurgical evaluation, the lesion was enucleated using an intraoral approach followed by osteoplasty. Osteogenesis was attained despite of any definitive techniques to promote bone regeneration. Immediate postoperative inter-maxillary fixation was performed to prevent pathological fractures for a period of 3 weeks. In an 8-month follow-up, no untoward complications were noticed.
Topics: Child; Epithelium; Female; Humans; Mandible; Mandibular Neoplasms; Mesoderm; Odontogenic Tumors; Odontoma
PubMed: 26045519
DOI: 10.1136/bcr-2015-209739 -
Hormones (Athens, Greece) Mar 2024Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH)... (Review)
Review
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
Topics: Infant, Newborn; Humans; Hyperparathyroidism, Primary; Calcium; Hypercalcemia; Adenoma; Fibroma; Hyperparathyroidism; Jaw Neoplasms
PubMed: 38038882
DOI: 10.1007/s42000-023-00508-9 -
Indian Journal of Dental Research :... 2016Odontogenic myxomas are a rare benign odontogenic mesenchymal tumor found exclusively in the tooth-bearing area of the jaw and are usually located centrally in the...
Odontogenic myxomas are a rare benign odontogenic mesenchymal tumor found exclusively in the tooth-bearing area of the jaw and are usually located centrally in the mandible. Soft tissue localization is rarely seen and is classified as peripheral odontogenic myxoma (POM). POM is slow growing and less aggressive as compared to central myxoma. It has a low recurrence rate, comprises 3-6% of all odontogenic tumors. Only a few cases of POM on maxillary gingiva are reported in the literature. Here, we present an unusual case of primary POM occurring in the gingiva of anterior maxilla in a 14-year-old female patient.
Topics: Adolescent; Diagnosis, Differential; Female; Humans; Maxillary Neoplasms; Myxoma; Odontogenic Tumors
PubMed: 27723644
DOI: 10.4103/0970-9290.191896 -
Journal of Surgical Oncology Aug 2019Sarcomas of the mandible are extremely rare tumors, with osteosarcoma being the most common, followed by Ewing's sarcoma MATERIALS AND METHODS: A retrospective review of...
INTRODUCTION
Sarcomas of the mandible are extremely rare tumors, with osteosarcoma being the most common, followed by Ewing's sarcoma MATERIALS AND METHODS: A retrospective review of the clinical records, imaging studies, and pathology slides of patients with sarcoma of the mandible at a Tertiary Care Cancer Center from 1998 to 2014 was undertaken. The impact of neoadjuvant chemotherapy and postoperative radiotherapy with or without chemotherapy was studied, and factors impacting upon local control and disease-specific survival were analyzed.
RESULTS
Twenty-two patients were treated over the study period, comprising of 15 males and seven females. External swelling, intraoral growth, or facial numbness were the presenting symptoms. Eighteen patients had osteosarcoma and four had the Ewing's sarcoma. Nine patients received neoadjuvant chemotherapy. All but one patient underwent surgery. Eleven had negative margins, with 90% recurrence-free survival at 3 years, compared to 10 with positive or close margins, leading to 67% recurrence-free survival. None of the patients receiving neoadjuvant chemotherapy developed recurrence and all were alive at 3 years. The impact of postoperative radiotherapy or adjuvant chemotherapy was not statistically significant.
CONCLUSIONS
Wide surgical resection with negative margins remains the hallmark of surgical treatment.
Topics: Adolescent; Adult; Aged; Child; Combined Modality Therapy; Female; Humans; Male; Mandibular Neoplasms; Margins of Excision; Middle Aged; Neoplasm Recurrence, Local; Prognosis; Retrospective Studies; Sarcoma; Survival Rate; Young Adult
PubMed: 30993699
DOI: 10.1002/jso.25477 -
International Journal of Molecular... Jun 2022The gene, a defect which causes hyperparathyroidism-jaw tumor (HPT-JT) syndrome, encodes CDC73/parafibromin. We aimed to investigate whether CDC73 would be a target for...
The gene, a defect which causes hyperparathyroidism-jaw tumor (HPT-JT) syndrome, encodes CDC73/parafibromin. We aimed to investigate whether CDC73 would be a target for ubiquitin-proteasome degradation. We cloned full-length cDNAs encoding a family of 58 ubiquitin-specific deubiquitinating enzymes (DUBs), also known as ubiquitin-specific proteases (USPs). Use of the yeast two-hybrid system then enabled us to identify USP37 as interacting with CDC73. The biochemical interaction between the USP37 and CDC73 and their reciprocal binding domains were studied. Co-localization of CDC73 and USP37 was observed in cells. CDC73 was found to be polyubiquitinated, and polyubiquitination of CDC73 was prominent in mutants. CDC73 was deubiquitinated via K48-specific ubiquitin chains by USP37, but not by the catalytically inactive USP37 mutant. Observation of the binding between deletion mutants of CDC73 and USP37 revealed that the β-catenin binding site of CDC73 and the ubiquitin-interacting motifs 2 and 3 (UIM2 and 3) of USP37 were responsible for the interaction between the two proteins. Moreover, these two enzymes co-existed within the nucleus of COS7 cells. We conclude that USP37 is a DUB for CDC73 and that the two proteins interact through specific domains, suggesting that USP37 is responsible for the stability of CDC73 in HPT-JT syndrome.
Topics: Adenoma; Endopeptidases; Fibroma; Humans; Hyperparathyroidism; Jaw Neoplasms; Transcription Factors; Tumor Suppressor Proteins; Ubiquitins
PubMed: 35742816
DOI: 10.3390/ijms23126364 -
Head and Neck Pathology Mar 2023Cystic lesions of the gnathic bones present challenges in differential diagnosis. This category includes a smorgasbord of odontogenic and non-odontogenic entities that... (Review)
Review
BACKGROUND
Cystic lesions of the gnathic bones present challenges in differential diagnosis. This category includes a smorgasbord of odontogenic and non-odontogenic entities that may be reactive or neoplastic in nature. While most cystic jaw lesions are benign, variability in biologic behavior makes distinction between these entities absolutely crucial.
METHODS
Review.
RESULTS
Two clinical cases are presented in parallel and are followed by an illustrated discussion of the ten most likely differential diagnoses that should be considered when confronted with a cystic jaw lesion. Strong emphasis is placed on the histologic differences between these entities, empowering readers to diagnose them with confidence. Perhaps even more importantly, the more common diagnostic pitfalls in gnathic pathology are discussed, recognizing that a definitive diagnosis cannot be rendered in every situation. The histologic diagnoses for the two clinical cases are finally revealed.
CONCLUSION
Cystic lesions of the maxilla and mandible may be odontogenic or non-odontogenic. The most common cystic lesions are the reactive periapical cyst, and the dentigerous cyst (which is developmental in nature). It is important to note that cystic neoplasms also occur in the jaws, and that the presence of inflammation may obscure the diagnostic histologic features of lesions like odontogenic keratocyst and unicystic ameloblastoma. Ancillary testing is of limited diagnostic value in most scenarios. However, both clinical and radiographic information (such as the location, size, duration, associated symptoms, and morphology of the lesion in its natural habitat) are significantly useful.
Topics: Humans; Diagnosis, Differential; Jaw Neoplasms; Odontogenic Cysts; Odontogenic Tumors; Ameloblastoma; Maxilla
PubMed: 36928736
DOI: 10.1007/s12105-023-01525-1