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Cureus Jan 2024This case report discusses a 28-year-old patient who presented with a large expansile lesion of the right mandible. A maxillofacial CT showed a 6.7 x 9.1 x 7.6 cm right...
This case report discusses a 28-year-old patient who presented with a large expansile lesion of the right mandible. A maxillofacial CT showed a 6.7 x 9.1 x 7.6 cm right mandibular cystic mass containing an internal matrix of ground glass bone, representing a huge odontogenic keratocyte. Upon biopsy of the lesion, the specimen consisted of non-decalcified irregular fragments of cemento-osseous material, embedded in a minimally hemorrhagic, cellular fibrous tissue stroma, suggestive of central ossifying fibroma. This case presents an ossifying fibroma that far exceeds the average size of these masses, which typically range from 1.0 to 2.5 cm at its greatest dimension. The immense size of the lesion seen in this case is rarely encountered. This case also helps to emphasize the importance of timely diagnosis and complete resection of the lesion to prevent mass recurrence and possible malignant transformation.
PubMed: 38406103
DOI: 10.7759/cureus.52863 -
International Journal of Molecular... Feb 2024A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as... (Review)
Review
A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of genetic testing and parafibromin staining. This narrative review included a sample-focused analysis from the past decade according to a PubMed search. We identified 17 original human studies (≥4 patients per article). The mean age at disease onset was between 20.8 and 39.5 years, while the largest study found that 71% of patients had HJT recognised before the age of 30. Males and females seemed to be equally affected, in contrast with sporadic PHP. PHP represented the central manifestation of HJT, occurring as the first manifestation in up to 85% of HJT cases. A biochemistry panel found a mean serum calcium level above the level of 12 mg/dL in PHP. PTH was elevated in HJT as well, with average values of at least 236.6 pg/mL. The most frequent pathological type in PHP was a parathyroid adenoma, but the incidence of a parathyroid carcinoma was much higher than in non-HJT cases (15% of all parathyroid tumours), with the diagnosis being established between the age of 15 and 37.5. In some families up to 85% of carriers suffered from a parathyroid carcinoma thus indicating that certain pathogenic variants may harbour a higher risk. An important issue in HJT was represented by the parafibromin profile in the parathyroid tumours since in HJT both parathyroid adenomas and carcinomas might display a deficient immunoreactivity. Another frequent manifestation in HJT was ossifying fibromas of the jaw (affecting 5.4% to 50% of patients; the largest study found a prevalence of 15.4%). HJT was associated with a wide variety of kidney lesion (mostly: kidney cysts, with a prevalence of up to 75%, and renal tumours involved in 19% of patients). The risk of uterine lesions seemed increased in HJT, especially with concern to leiomyomas, adenofibromas, and adenomyosis. The underlying pathogenic mechanisms and the involvement of pathogenic variants and parafibromin expression are yet to be explored. Currently, the heterogeneous expression of parafibromin status and, the wide spectrum of mutations including the variety of clinical presentations in HJT, make it difficult to predict the phenotype based on the genotype. The central role of HJT-PHP is, however, the main clinical element, while the elevated risk of parathyroid carcinoma requires a special awareness.
Topics: Male; Female; Humans; Young Adult; Adult; Parathyroid Neoplasms; Jaw Neoplasms; Hyperparathyroidism; Fibroma; Transcription Factors; Tumor Suppressor Proteins; Adenoma
PubMed: 38396977
DOI: 10.3390/ijms25042301 -
Tomography (Ann Arbor, Mich.) Feb 2024Since there are many differential diagnoses for cemento-osseous dysplasia (COD), it is very difficult for dentists to avoid misdiagnosis. In particular, if COD is...
BACKGROUND
Since there are many differential diagnoses for cemento-osseous dysplasia (COD), it is very difficult for dentists to avoid misdiagnosis. In particular, if COD is related to an embedded tooth, differential diagnosis is difficult. However, there have been no reports on the characteristics of the imaging findings of COD associated with embedded teeth. The aim of the present study was to investigate the occurrence and imaging characteristics of cemento-osseous dysplasia (COD) associated with embedded teeth, in order to appropriately diagnose COD with embedded teeth.
METHODS
The radiographs with or without histological findings of 225 patients with COD were retrospectively analyzed. A retrospective search through the picture archiving and communication system (PACS) of the Division of Oral and Maxillofacial Radiology of Kyushu Dental University Hospital was performed to identify patients with COD between 2011 and 2022.
RESULTS
Fifteen COD-associated embedded mandibular third molars were identified in 13 patients. All 13 patients were asymptomatic. On imaging, COD associated with embedded mandibular third molars appeared as masses that included calcifications around the apex of the tooth. On panoramic tomography, COD showed inconspicuous internal calcification similar to that of odontogenic cysts or simple bone cysts, especially in patients with COD only around the mandibular third molar region. Those with prominent calcification resembled cemento-ossifying fibroma, calcifying epithelial odontogenic tumor, calcifying odontogenic cyst, adenomatoid odontogenic tumor, and so on, as categories of masses that include calcifications on panoramic tomography and computed tomography.
CONCLUSIONS
The current investigation is the first to report and analyze the imaging characteristics of COD associated with embedded teeth. It is important to consider the differences between COD and other cystic lesions on panoramic tomography, and the differences between COD and masses that include calcifications on CT.
Topics: Humans; Retrospective Studies; Odontogenic Tumors; Cementoma; Radiography; Tomography, X-Ray Computed
PubMed: 38393286
DOI: 10.3390/tomography10020018 -
Indian Journal of Pathology &... Feb 2024Indistinct and analogous histopathological features of various fibro-osseous lesions make establishing a definitive diagnosis a challenge. There is a need for additional...
BACKGROUND
Indistinct and analogous histopathological features of various fibro-osseous lesions make establishing a definitive diagnosis a challenge. There is a need for additional molecular and histochemical tools to support and differentiate these lesions in order to establish a concrete diagnosis.
MATERIALS AND METHODS
A retrospective analysis of biopsied lesions in formalin-fixed paraffin-embedded sections (10 cases each of fibrous dysplasia, ossifying fibroma, and cement-osseous dysplasia) retrieved from the archives was studied for immunoexpression of osteocalcin (quantitative analysis in osteocytes), collagen characterization using Azan, Picrosirus, and Toluidine blue stain for evaluating intensity and localization of collagen fibers, and morphometric analysis of vasculature (for evaluating mean vessel density as square microns).
RESULTS
Positive immunostaining of osteocalcin suggested mutations of the GNAS-1 gene found in fibrous dysplasia indirectly, as it is a negative regulator of bone formation. Osteocalcin immunopositivity was quantitatively measured in the fibro-osseous lesions, with fibrous dysplasia measuring 14.47 ± 3.628 as compared to ossifying fibroma measuring 5.23 ± 1.33, followed by cemento-osseous dysplasia measuring 2.30 ± 1.409. Toluidine blue suggests the presence of oxytalan fibers (resistant to acid hydrolysis) in ossifying fibroma and cemento-osseous dysplasia, pointing toward the pathogenesis of the lesion. Azan stain and Picrosirus (under a polarizing microscope) helped in distinguishing hard tissue characteristics (70% of cases of fibrous dysplasia showed only a magenta component followed by intermixed magenta with a blue component in 20% of cases and only 10% of cases showed magenta with blue borders whereas for ossifying fibroma, 40% of cases depicted magenta with blue borders along with the other 40% with intermixed magenta with blue component). The mean vessel density was also highest in fibrous dysplasia measuring 7.90 ± 1.079 (in Sq. micron area), followed by ossifying fibroma and cemento-osseous dysplasia.
CONCLUSION
The diagnosis of fibro-osseous lesions by hematoxylin and eosin alone is confusing and thus should be supported by relatively simple histomorphometric analysis for better treatment outcomes. At the diagnostic stage of fibro-osseous lesions, evaluation of intralesional vessel size, reliable molecular marker, and histochemical nature can aid in differentiating fibrous dysplasia from central ossifying fibroma and cemento-osseous dysplasia alongside, other clinical, radiographic and pathological criteria. These parameters help in the diagnostic decision-making of fibro-osseous lesions.
PubMed: 38391368
DOI: 10.4103/ijpm.ijpm_918_22 -
Indian Journal of Pathology &... Feb 2024Giant cell collagenoma (GCC) is a rare benign dermal fibrous tumor. Although it has many clinicopathological differential diagnoses, it is often confused with cutaneous...
Giant cell collagenoma (GCC) is a rare benign dermal fibrous tumor. Although it has many clinicopathological differential diagnoses, it is often confused with cutaneous sclerotic fibroma/storiform collagenoma (SF/SC) and dermatofibroma. The following characteristic features point to GCC's diagnosis over the latter: the presence of peculiar multinucleated giant cells, and vimentin positivity of both single and multinucleated giant cells on immunohistochemistry. Most of the reported cases have mentioned that GCC is a variant of SF/SC. We report a rare case of GCC presenting as a slow-growing solitary firm nodule over the right ankle. To the best of our knowledge, only less than ten cases have been reported, including the index case. We have also reviewed the clinicopathological features of those cases and discussed the approach to the diagnosis.
PubMed: 38391332
DOI: 10.4103/ijpm.ijpm_260_22 -
Indian Journal of Pathology &... Jul 2023Hybrid tumors are rare lesions having features of multiple diseases in one lesion. A hybrid tumor of central giant cell granuloma (CGCG) and central ossifying fibroma...
Hybrid tumors are rare lesions having features of multiple diseases in one lesion. A hybrid tumor of central giant cell granuloma (CGCG) and central ossifying fibroma (COF) shows the presence of microscopically large areas with CGCG character and large areas with COF features inside a single clinical lesion, separated by a transition zone. A rare type of COF is juvenile ossifying fibroma (JOF)-trabecular variant in the mandible. We present a unique and rare case of a hybrid tumor of the CGCG-JOF-trabecular variant in the mandible of a 14-year-old female which initially diagnosed with CGCG. The ambiguous pathogenesis of hybrid tumors and giant cells is reviewed. The goal of this article is to highlight the importance of careful clinical, radiological, and histopathological examination of each case to prevent misdiagnoses and recurrences. Similar and other cases must be reported in order to better understand the interrelationship between these hybrid lesions and their biological behavior.
PubMed: 38391302
DOI: 10.4103/ijpm.ijpm_623_22 -
BMC Oral Health Feb 2024Desmoplastic fibroma (DF) is an uncommon bone tumor that originates from the mesenchymal tissue and despite being benign, exhibits aggressive behavior locally. The...
Desmoplastic fibroma (DF) is an uncommon bone tumor that originates from the mesenchymal tissue and despite being benign, exhibits aggressive behavior locally. The following report describes the case of a 7-year-old boy with a rapidly enlarging swelling on the right side of the mandible. After a thorough clinical examination, radiographic imaging, and histopathological analysis, the diagnosis of DF was confirmed. Treatment planning was formulated considering both the tumor's tendency for local recurrence and the patient's well-being. Due to the patient's young age, segmental resection was not deemed appropriate, and an aggressive curettage and enucleation of the lesion followed by the bone graft was performed instead. The patient was kept under close follow-up for the first month of post-surgery and later reviewed after 3, 6, 9, and 12 months, respectively. Good bone healing was observed on radiographs. The patient did not show any signs of recurrence based on clinical or radiographic assessments and did not exhibit any neurosensory deficits as well.
Topics: Male; Humans; Child; Fibroma, Desmoplastic; Mandible; Radiography; Bone Transplantation
PubMed: 38378640
DOI: 10.1186/s12903-024-04018-x -
Archivos Espanoles de Urologia Jan 2024This study aims to analyse the clinical value of computed tomography (CT) scanning parameters combined with serum teratoma-derived growth factor-1 () in the diagnosis of...
OBJECTIVE
This study aims to analyse the clinical value of computed tomography (CT) scanning parameters combined with serum teratoma-derived growth factor-1 () in the diagnosis of renal cell carcinoma (RCC).
METHODS
A retrospective analysis was conducted on 256 patients with renal tumour admitted to our hospital from July 2020 to December 2022. They were divided into malignant group (n = 180) and benign group (n = 76) based on the final pathological results. All subjects underwent CT scans and serum testing. The CT signs and serum levels of the patients were analysed, and their diagnostic efficacy was evaluated.
RESULTS
The pathological diagnosis results showed 180 cases of malignant tumours, including 73 cases of clear cell carcinoma, 60 cases of papillary RCC and 47 cases of chromophobe cell carcinoma as well as 76 cases of benign tumour, including 31 cases of renal angiomyolipoma, 25 cases of eosinophilic tumour and 20 cases of renal fibroma. The malignant group had significantly higher incidence of cystic necrosis, uneven enhancement and rapid progression than the benign group ( < 0.01). The incidence of calcification was not statistically different between the two groups ( > 0.05). The malignant group had lower CT value of focus ( < 0.01) and relative corrected CT value of the renal cortex ( < 0.05), and significantly higher serum levels of ( < 0.01) than the malignant group. The area under the curve of the combined diagnosis was significantly higher than that of serum alone and comprehensive diagnosis of CT parameters ( < 0.001, = 0.002). The sensitivity of the combined diagnosis was also higher than that of serum and CT parameters alone.
CONCLUSIONS
The combination of CT scanning parameters and serum has high value in the diagnosis of renal tumours, and the area under the curve and sensitivity of the combined diagnosis are high. This work provides reference for clinical diagnosis and treatment of renal tumours.
Topics: Humans; Carcinoma, Renal Cell; Kidney Neoplasms; Retrospective Studies; Angiomyolipoma; Tomography, X-Ray Computed; Diagnosis, Differential; Intercellular Signaling Peptides and Proteins
PubMed: 38374009
DOI: 10.56434/j.arch.esp.urol.20247701.3 -
African Health Sciences Sep 2023Breast lesions are not common in children and adolescents. The aim of this study is to retrospectively survey the clinicopathological pattern of breast lesions in...
BACKGROUND
Breast lesions are not common in children and adolescents. The aim of this study is to retrospectively survey the clinicopathological pattern of breast lesions in children and adolescents in our setting.
MATERIALS AND METHOD
This is a retrospective study of all breast specimens from children and adolescents that were histopathologically diagnosed in University of Uyo Teaching Hospital.
RESULTS
The youngest patients seen were 11 years old, with mean age of 17.1 ± 1.91. The commonest clinical diagnoses were fibroadenoma (n=134, 72.4%). Thirty-five-point seven percent of the patients presented within 6 months of noticing the lump. The mean size of the lumps was 6.2cm ± 3.9. Fibroadenoma was the most common benign diagnosis and the most common histopathologic diagnosis in this study. The mean age of patients with fibroadenoma was 17.15±1.83.
CONCLUSION
The pattern of breast lesions in adolescents in Uyo is similar to that from other parts of Nigeria.
Topics: Child; Humans; Adolescent; Young Adult; Adult; Female; Breast Diseases; Retrospective Studies; Fibroadenoma; Breast Neoplasms; Breast; Fibroma
PubMed: 38357104
DOI: 10.4314/ahs.v23i3.28 -
Case Reports in Dentistry 2024Stafne's bone defect is a developmental anatomic bone defect in the lingual side of the mandible in the area of the mandibular angle that is filled with proliferation or...
Stafne's bone defect is a developmental anatomic bone defect in the lingual side of the mandible in the area of the mandibular angle that is filled with proliferation or translocation of adjacent structures such as salivary gland tissue. The etiology is still undefined, and two hypotheses are proposed: one is the glandular related to the submandibular or sublingual glands and the second is ischemic that affects the vascularization of the mandibular lingual. Usually, Stafne's bone defect is accidentally detected on panoramic radiographs during dental treatments as a well-limited radiolucency image with a clear peripheral regular condensation border, located below the mandibular canal. The differential diagnosis includes traumatic bone cyst, odontogenic and nonodontogenic cystic lesions, nonossifying fibroma, focal osteoporotic bone marrow defect, and other lesions. A case of Stafne's bone defect on a 60-year-old male patient extending in the lingual posterior part of the mandibular region was presented. The panoramic radiograph revealed a well-limited radiolucency image with a clear peripheral regular condensation border, located below the mandibular canal. The lesion was discovered in a routine radiographic exam: the cone beam computed tomography gave us more details about the localization, the shape and size, and the relation with the mandibular canal, and the magnetic resonance imaging identifies the nature of the inside soft tissue. The final diagnosis was a Stafne's bone defect resulting of a depression of the lingual cortical plate filled with expansion of the submandibular gland.
PubMed: 38351968
DOI: 10.1155/2024/1173783