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BMC Musculoskeletal Disorders Jun 2024Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after... (Review)
Review
BACKGROUND
Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it's suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1).
CASE PRESENTATION
In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both.
CONCLUSION
Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.
Topics: Humans; Male; Adolescent; Neurofibromatosis 1; Cafe-au-Lait Spots; Female; Fibroma; Femoral Fractures
PubMed: 38937801
DOI: 10.1186/s12891-024-07581-0 -
Journal of Clinical Medicine May 2024The World Health Organization's (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment...
The World Health Organization's (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment paradigms by integrating novel molecular insights. Fibro-osseous lesions of the maxillo-facial bones constitute a heterogeneous group encompassing fibrous dysplasia, Psammomatoid Ossifying Fibroma (PSOF), Juvenile Trabecular Ossifying Fibroma (JTOF), and other variants. Despite histological similarities, their distinct clinical manifestations and prognostic implications mandate precise differentiation. The intricacies of diagnosing fibro-osseous lesions pose challenges for pathologists, maxillofacial surgeons, dentists and oral surgeons, underscoring the importance of a systematic approach to ensure optimal patient management. Herein, we present two cases, fibrous dysplasia and Cemento-Ossifying Fibroma, detailing their clinical encounters and management strategies. Both patients provided informed consent for publishing their data and images, adhering to ethical guidelines.
PubMed: 38892944
DOI: 10.3390/jcm13113233 -
Histopathology Jun 2024
PubMed: 38890784
DOI: 10.1111/his.15240 -
Clinical and Experimental Dental... Jun 2024Gingiva is one of the supporting tissues around the teeth that can be affected by various neoplastic or nonneoplastic lesions. Previous studies have examined several...
OBJECTIVES
Gingiva is one of the supporting tissues around the teeth that can be affected by various neoplastic or nonneoplastic lesions. Previous studies have examined several types of gingival lesions, but the lack of a standardized classification system has hindered meaningful comparisons. Additionally, many studies focused primarily on reactive lesions. Our study aims to contribute to the understanding of gingival lesions by investigating their prevalence across age groups, genders, sites, and by their clinical presentation. This research could lead to improved diagnostic accuracy and treatment strategies.
MATERIALS AND METHODS
This retrospective study explores the prevalence of gingival lesions based on biopsies during a 22-year span. The patient's demographic details, including age, gender, and lesion's clinical presentation were systematically collected. These lesions were categorized into six groups. Descriptive statistics, χ test of independence, and one-way ANOVA were used for data analysis.
RESULTS
Among the 7668 biopsied lesions, 684 (8.9%) lesions were located in the gingiva, with a greater occurrence in women (63.5%). Soft tissue tumors represented the most prevalent group in the gingival lesions (72.1%), and peripheral giant cell granuloma (PGCG) was the most frequent lesion (21.2%), followed by, pyogenic granuloma (19.3%), peripheral ossifying fibroma (17.8%) and focal fibrous hyperplasia (7.6%); all of which predominantly affected women, with mean ages falling in the fourth decade of life. Squamous cell carcinoma was recognized as the most common malignancy.
CONCLUSION
In this study, PGCG was found to be the most common lesion in the gingiva in Iranian population. Further analysis using a unanimous categorization is required to confirm these results.
Topics: Humans; Female; Retrospective Studies; Iran; Male; Adult; Prevalence; Gingival Diseases; Adolescent; Middle Aged; Child; Young Adult; Aged; Child, Preschool; Gingival Neoplasms; Granuloma, Giant Cell; Gingiva; Granuloma, Pyogenic; Infant; Biopsy; Fibroma, Ossifying; Aged, 80 and over
PubMed: 38881225
DOI: 10.1002/cre2.911 -
Cureus May 2024Dermatofibrosarcoma protuberans (DFSP) is a low- to intermediate-grade dermal soft tissue malignant tumor (sarcoma) with a high local recurrence rate but low metastatic...
Dermatofibrosarcoma protuberans (DFSP) is a low- to intermediate-grade dermal soft tissue malignant tumor (sarcoma) with a high local recurrence rate but low metastatic potential. DFSP is characterized by uniform spindle cell fascicles arranged classically in a storiform pattern and by CD34 immunoreactivity. On gross examination, DFSP usually manifests as a white or yellow soft tissue mass with a smooth outer surface and poor circumscription. In this study, we report a case of DFSP with fibrosarcomatous transformation, a rare but well-known phenomenon encountered in DFSP that is correlated with an increased risk of adverse outcomes in patients with DFSP. A 45-year-old male presented with a progressively enlarging lump on his left shoulder, initially suspected of being a lipoma but diagnosed as a fibrosarcomatous transformation of DFSP. Surgical resection was performed, with the subsequent identification of metastatic sarcoma in pulmonary nodules. Robotic-assisted thoracoscopy excised the nodules, confirming metastatic sarcoma with aggressive behavior. Despite negative adjuvant treatment plans, the patient remains under surveillance with imaging, showing no recurrence in recent scans. Continued follow-up with medical and surgical oncology is planned. DFSP is a rare soft tissue sarcoma characterized by indolent growth and low metastatic potential, except in fibrosarcomatous transformation cases. Molecularly, DFSP is defined by a COL1A1-PDGFB fusion transcript that is targetable with imatinib therapy. Treatment involves wide surgical resection, with adjuvant radiation therapy in select cases. Radiation therapy may be employed in cases with close or positive margins, while conventional chemotherapy has limited utility. Multidisciplinary collaboration is crucial for optimal management. Overall, this case underscores the challenges in diagnosing and managing aggressive sarcomas like fibrosarcomatous DFSP, emphasizing the importance of vigilant surveillance and multidisciplinary collaboration in optimizing patient outcomes. Further research is needed to understand the mechanisms underlying fibrosarcomatous transformation and to explore novel therapeutic avenues for this challenging malignancy.
PubMed: 38841035
DOI: 10.7759/cureus.59742 -
Cureus May 2024Peripheral ossifying fibroma (POF) is a reactive overgrowth that most commonly occurs on the gingiva. It is a benign oral soft tissue tumour. It is most commonly found...
Peripheral ossifying fibroma (POF) is a reactive overgrowth that most commonly occurs on the gingiva. It is a benign oral soft tissue tumour. It is most commonly found on the anterior maxilla and has a female predilection. Most commonly found to occur in the second decade of life. This type of lesion originates from the cells of the periodontal ligament. It is often associated with trauma or local irritants, such as subgingival plaque and calculus, dental appliances and poor-quality dental restorations. This entity requires a proper treatment protocol and a regular follow-up. It can cause significant discomfort and irritation in the oral health if left untreated. The recurrence rate of the lesion varies according to the authors. This case report describes a case of POF in an adult female patient which was treated using surgical excision resulting in an uneventful healing during the post-operative period.
PubMed: 38841021
DOI: 10.7759/cureus.59749 -
Oral Diseases May 2024In this study, our aim was to develop and validate the effectiveness of diverse radiomic models for distinguishing between gnathic fibrous dysplasia (FD) and ossifying...
OBJECTIVE
In this study, our aim was to develop and validate the effectiveness of diverse radiomic models for distinguishing between gnathic fibrous dysplasia (FD) and ossifying fibroma (OF) before surgery.
MATERIALS AND METHODS
We enrolled 220 patients with confirmed FD or OF. We extracted radiomic features from nonenhanced CT images. Following dimensionality reduction and feature selection, we constructed radiomic models using logistic regression, support vector machine, random forest, light gradient boosting machine, and eXtreme gradient boosting. We then identified the best radiomic model using receiver operating characteristic (ROC) curve analysis. After combining radiomics features with clinical features, we developed a comprehensive model. ROC curve and decision curve analysis (DCA) demonstrated the models' robustness and clinical value.
RESULTS
We extracted 1834 radiomic features from CT images, reduced them to eight valuable features, and achieved high predictive efficiency, with area under curves (AUC) exceeding 0.95 for all the models. Ultimately, our combined model, which integrates radiomic and clinical data, displayed superior discriminatory ability (AUC: training cohort 0.970; test cohort 0.967). DCA highlighted its optimal clinical efficacy.
CONCLUSION
Our combined model effectively differentiates between FD and OF, offering a noninvasive and efficient approach to clinical decision-making.
PubMed: 38813877
DOI: 10.1111/odi.14984 -
Oral Surgery, Oral Medicine, Oral... Jul 2024Tenosynovial giant cell tumor is a benign neoplasm arising from the synovium of joints, including the temporomandibular joint (TMJ). Despite its benign nature, these...
Tenosynovial giant cell tumor is a benign neoplasm arising from the synovium of joints, including the temporomandibular joint (TMJ). Despite its benign nature, these tumors may exhibit aggressive behavior. A 57-year-old woman with a swollen, hardened area in the left TMJ was referred to the university´s clinic. The diagnosis of tenosynovial giant cell tumor was made based on the presence of hyperplastic synovial lining containing mononuclear and giant cells, hemorrhagic areas, hemosiderin deposits, and calcification foci in the biopsy. A low condylectomy was performed, and histopathologic analysis of the surgical piece upheld the diagnosis. Due to histopathologic resemblance with other giant cell-rich lesions (giant cell granuloma of the jaws, brown tumor of hyperparathyroidism, and non-ossifying fibroma) for which signature mutations are known, mutational analysis of KRAS, FGFR1, and TRPV4 genes was conducted. The results revealed wild-type sequences for all the mutations tested, thereby supporting the diagnosis of tenosynovial giant cell tumor.
Topics: Humans; Female; Middle Aged; Giant Cell Tumor of Tendon Sheath; Diagnosis, Differential; Biopsy; Temporomandibular Joint Disorders; Receptor, Fibroblast Growth Factor, Type 1; DNA Mutational Analysis; Proto-Oncogene Proteins p21(ras)
PubMed: 38760286
DOI: 10.1016/j.oooo.2024.01.014 -
Indian Journal of Dental Research :... Oct 2023Ossifying fibromas are rare, non-aggressive benign tumours of the bone, commonly involving the posterior mandible in middle-aged individuals with a female predilection.
INTRODUCTION
Ossifying fibromas are rare, non-aggressive benign tumours of the bone, commonly involving the posterior mandible in middle-aged individuals with a female predilection.
FINDINGS
Clinical manifestations include asymptomatic expansion of the mandible with infrequent maxillary lesions, pain, malocclusion, and compromised quality of life including aesthetic perception. Owing to multiplicity of features, tendency of recurrence, and possibility of malignant transformation, the diagnosis, treatment, and post-operative management of ossifying fibroma are always a challenge.
TAKEAWAY LESSONS
Study aims to report a clinical case of extensive swelling involving the coronoid process and condyle on the right side to crossing the mid-line of the mandible with compromised functions and aesthetics. The article describes the clinical, histopathological, and radiological features of the case. The possible treatment and challenges encountered are discussed.
Topics: Humans; Fibroma, Ossifying; Mandibular Neoplasms; Female; Radiography, Panoramic; Adult
PubMed: 38739833
DOI: 10.4103/ijdr.ijdr_134_21 -
Oral and Maxillofacial Surgery Clinics... Aug 2024Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of... (Review)
Review
Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of irregular, woven bone. They are more commonly diagnosed in young people, with treatment strategies dependent on clinical behavior and skeletal maturity. This article discusses the examples of craniofacial fibro-osseous lesions, based on the latest classifications, along with their diagnostic criteria and management.
Topics: Humans; Child; Diagnosis, Differential; Fibrous Dysplasia of Bone; Facial Bones; Fibroma, Ossifying; Craniofacial Fibrous Dysplasia; Skull Neoplasms
PubMed: 38705816
DOI: 10.1016/j.coms.2024.03.004