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Current Opinion in Otolaryngology &... Apr 2024Benign bony lesions of the craniofacial complex are relatively common. However, their location close to critical neurovascular structures may render their treatment, if... (Review)
Review
PURPOSE OF REVIEW
Benign bony lesions of the craniofacial complex are relatively common. However, their location close to critical neurovascular structures may render their treatment, if required, highly challenging.This article reviews the current literature on their pathophysiology, diagnosis, natural course and treatment, with a focus on most recent findings.
RECENT FINDINGS
A new classification has been suggested concerning endoscopic resectability. The ratio of lateral frontal to interorbital distance can accurately and reliably predict the endoscopic reach to lateral frontal sinus, while orbital transposition can assist us in reaching lateral frontal sinus when anatomy is unfavorable. New and combined endoscopic transnasal and transorbital approaches are now in the surgical armamentarium. Prophylactic optic nerve decompression in fibrous dysplasia is absolutely contraindicated as it leads to worse visual outcomes. Radiotherapy of such lesions is of no benefit and may lead to a higher risk of malignant transformation. The presence of Guanine Nucleotide binding protein Alpha Stimulating (GNAS) mutation in chromosome 20 is universally present in fibrous dysplasia and can differentiate them from ossifying fibromas.
SUMMARY
Diagnosis and therapeutic management of benign craniofacial bone lesions remains challenging. If surgical treatment is contemplated, the morbidity of the intervention should always be weighed against the potential benefits. Evolution of extended endoscopic endonasal and transorbital surgery means that more lesions can be reached purely endoscopically with better oncological and cosmetic results.
Topics: Humans; Paranasal Sinuses; Skull Base; Fibroma, Ossifying; Endoscopy; Frontal Sinus; Osteoma
PubMed: 38116853
DOI: 10.1097/MOO.0000000000000955 -
Journal of Medicine and Life Sep 2023Cemento-ossifying fibroma (COF) and juvenile ossifying fibroma (JOF) have been considered distinct entities within the category of fibro-osseous lesions. This study...
Cemento-ossifying fibroma (COF) and juvenile ossifying fibroma (JOF) have been considered distinct entities within the category of fibro-osseous lesions. This study aimed to assess osteoblast and osteoclast activity in COF and JOF by investigating bone resorption markers, specifically receptor activator of nuclear factor-kB (RANK), RANK ligand (RANKL), and its inhibitor osteoprotegerin (OPG). A comparative analysis of these markers was performed on all lesions. Immunohistochemistry was employed to evaluate and quantify the expression of these biomarkers in a sample of 20 cases of cemento-ossifying fibroma (COF), 15 cases of psammomatoid juvenile ossifying fibroma (PsJOF), and 10 cases of trabecular juvenile ossifying fibroma (TrJOF). The expression of osteoprotegerin was significantly higher in cemento-ossifying fibroma (33.9±13.0) compared to trabecular juvenile ossifying fibroma (27.3±9.2) and psammatoid ossifying fibroma (25.2±14.9), with the COF showing the highest expression followed by the latter two (p=0.037). There was a higher percentage (80%) of stromal fibroblast cells that showed positive expression of RANKL in cemento-ossifying fibroma (COF) compared to psammomatoid juvenile ossifying fibroma (PsJOF) (33.3%) and trabecular juvenile ossifying fibroma (TrJOF) (30.0%) when considering a positive expression score of 3 (p=0.024). Cemento-ossifying fibroma demonstrated the highest expression of osteoprotegerin and RANKL-positive stromal fibroblast cells, followed by psammomatoid juvenile ossifying fibroma and trabecular juvenile ossifying fibroma. These findings provide valuable insights into the pathogenesis of these lesions.
Topics: Humans; Fibroma, Ossifying; Osteoprotegerin; Cementoma; Osteoclasts; Bone Neoplasms
PubMed: 38107708
DOI: 10.25122/jml-2023-0126 -
Cureus Nov 2023The peripheral cemento-ossifying fibroma (PCOF) lesion primarily affects females in their second decade of living. These lesions are more frequently associated with the...
The peripheral cemento-ossifying fibroma (PCOF) lesion primarily affects females in their second decade of living. These lesions are more frequently associated with the gingival margin, the anterior surface of the molars, and the maxilla. On clinical examination, PCOF typically appears as a well-differentiated, slowly expanding gingival mass in the interdental papilla region that is less than 2 cm in size. The surface may seem ulcerated, the base may be sessile or sometimes pedunculated, and the colour is either the same as the gingiva or reddish. The histological examination, which identifies cellular connective tissue and the focal presence of bone or calcifications, provides the basis for the final diagnosis. Treatment modalities for the PCOF include surgical excision of the lesion. A 38-year-old female reported slow-growing swelling associated with the maxillary anterior region. Removal of the lesion is done by using a scalpel, and histopathological examination revealed the peripheral type of cemento-ossifying fibroma. This case report demonstrates the management of PCOF lesions with the conventional scalpel approach with the help of proper clinical examination, radiological findings, and histopathological examination, which reveals favourable outcomes in the patient regarding esthetics and improves mastication-related issues and speech.
PubMed: 38073985
DOI: 10.7759/cureus.48410 -
Oman Journal of Ophthalmology 2023The aim is to present a unique clinical case of a 62-year-old male with an ossifying fibroma (OF) in the left orbit. He presented with a slow-growing mass with bone...
The aim is to present a unique clinical case of a 62-year-old male with an ossifying fibroma (OF) in the left orbit. He presented with a slow-growing mass with bone consistency which easily shifted with palpation. After removal, it was given the histopathological diagnosis of osteoma. However, the lesion grew back rapidly and it became even larger 4 months later. After a computed tomography scan with a contrast medium, another surgery was performed. The histopathological diagnosis of the recurrent lesion was an epidermal cyst with secondary degenerative changes. As both diagnoses did not fit the clinical picture, we sent the material from both surgeries for a secondary assessment. The final histopathological diagnosis was OF. OF should be included in the differential diagnosis of benign lesions in the orbit with aggressive behavior.
PubMed: 38059106
DOI: 10.4103/ojo.ojo_36_23 -
Child's Nervous System : ChNS :... Mar 2024Juvenile psammomatoid ossifying fibroma (JPOF) is an osteofibrous neoplasm that originates in the craniofacial skeleton typically during the first three decades of life.... (Review)
Review
Juvenile psammomatoid ossifying fibroma (JPOF) is an osteofibrous neoplasm that originates in the craniofacial skeleton typically during the first three decades of life. JPOFs usually involve the orbit, paranasal sinuses or the jaws. Extensive involvement of the anterior cranial base with compromised visual function is a rare phenomenon. In such clinical context, a definite diagnosis can only be made on the basis of histopathological findings, given the absence of pathognomonic radiological features. Despite being considered a benign entity, JPOFs present a locally aggressive behavior. Therefore, these neoplasms must be included in the differential diagnosis in every patient harboring a skull base osteofibrous lesion, and, once diagnosed, gross total surgical removal should be attempted. In this study, we present our experience in the diagnosis and treatment of a patient diagnosed with a giant JPOF involving the cranial base.
Topics: Humans; Fibroma, Ossifying; Bone Neoplasms; Diagnosis, Differential; Head; Paranasal Sinuses
PubMed: 38038744
DOI: 10.1007/s00381-023-06206-6 -
Cureus Oct 2023A peripheral ossifying fibroma (POF) is a benign, localized lesion that originates from the periosteum or periodontal ligament after traumatic or calculus irritation....
A peripheral ossifying fibroma (POF) is a benign, localized lesion that originates from the periosteum or periodontal ligament after traumatic or calculus irritation. The lesions typically manifest in females throughout their second and third decades of life. The diagnosis of a POF is challenging from both clinical and histological standpoints, as it exhibits overlapping features with numerous other clinical entities. This case describes an unusual occurrence of POFs in the anterior maxilla of a 66-year-old female patient who is edentulous at this jaw, but the last two teeth of the lower jaw affect it. The radiographic evaluation revealed no discernible alterations within the bone structure. The diagnosis of POFs was determined through histological investigation. The microscopic examination revealed scattered immature osteoid dystrophic calcified depositions in deep positions, whereas the overlying stratified squamous epithelium manifested frictional keratosis (hyperplasia). The stromal fibroblasts of the collagenous stroma displayed ovoid, normochromatic nuclei, without atypia. Interestingly, the particular importance of this POF case indicates the possibility of an atypical formation in terms of age and location suggesting the role of local chronic irritation as the most critical parameter. Regardless of the initial causative factor, which may be the remnants of the periodontal ligament, the periosteum, or the gingival fibroblasts, ultimately mechanical trauma constitutes the crucial prerequisite so that reactive hyperplasias may be induced.
PubMed: 38034273
DOI: 10.7759/cureus.47955 -
Skeletal Radiology Jul 2024Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological...
Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1% of all bone tumors. A geographical lytic, expansile, and septated radiological pattern, with fluid-fluid levels on MRI, is classically displayed. ABC can be a primary bone lesion (70% of patients) or can arise in an underlying condition and is subsequently named "ABC-like changes" (30%). ABC-like changes are more frequently encountered in skeletal segments affected by chondroblastoma, fibrous dysplasia, giant cell tumor, osteoblastoma, non-ossifying fibroma, and osteosarcoma. In this article, we describe the first case of ABC-like changes developed in association with an ultra-rare sclerosing bone disease: melorheostosis. Melorheostosis is characterized by recognizable patterns on radiological studies with a pathological increased bone density and a cortical thickening within the periosteal or endosteal space, usually with a "dripping candle wax" appearance. More rarely, other different radiological patterns can be observed, such as "osteopatia striata-like," "osteoma-like," "myositis ossificans-like," and mixed patterns. Pain and limb hypotrophy are the most common clinical manifestations. We report the case of a Caucasian male with a clinic-radiological diagnosis of melorheostosis (with epiphyseal osteopoikilosis) since the age of twelve. At the age of nineteen, he suffered from increased pain in the proximal right thigh, and the radiological control revealed an expansive septated lesion at the right proximal femoral bone. The diagnosis of ABC-like changes developed in melorheostosis was obtained after CT-guided bone biopsy and confirmed by open-incisional biopsy.
Topics: Humans; Melorheostosis; Male; Bone Cysts, Aneurysmal; Osteopoikilosis; Magnetic Resonance Imaging; Diagnosis, Differential; Epiphyses; Adult; Tomography, X-Ray Computed
PubMed: 38015230
DOI: 10.1007/s00256-023-04529-8 -
Modern Pathology : An Official Journal... Feb 2024Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its...
Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.
Topics: Humans; Cementoma; Fibroma, Ossifying; Odontogenic Tumors; Genomics; Protein Tyrosine Phosphatases, Non-Receptor; Adaptor Proteins, Signal Transducing; Ubiquitin-Protein Ligases
PubMed: 37995913
DOI: 10.1016/j.modpat.2023.100388 -
Oral and Maxillofacial Surgery Jun 2024The purpose of this study is to evaluate the association between hyperparathyroidism (PHPT), parathyroid hormone levels, and calcium levels in patients diagnosed with...
PURPOSE
The purpose of this study is to evaluate the association between hyperparathyroidism (PHPT), parathyroid hormone levels, and calcium levels in patients diagnosed with benign fibro-osseous lesions such as fibrous dysplasia (FD), ossifying fibroma (OF), central giant cell granulomas (GCG).
METHODS
This is a retrospective, single-center study from a sample of patients who underwent surgical treatment of FD, OF, and GCG at Mayo Clinic between 1996 and 2021. Patient demographics, history of PHPT, histopathological diagnosis, and relevant laboratory values such as parathyroid hormone (PTH), serum calcium, vitamin D, and alkaline phosphatase were collected.
RESULTS
Of the patients diagnosed with FD (n = 64), OF (n = 24), and GCG (n = 5), a diagnosis of PHPT was found in 2 patients (3.1%), 1 patient (4.2%), and 0 patients (0%), respectively. Elevated PTH levels (>65 pg/mL) were observed in 3 patients (4.7%) with FD, 1 patient (4.2%) with OF, and 1 patient (20%) with GCG. Mean (standard deviation) calcium levels were 9.3 (0.6) mg/dL in the FD group, 9.4 (0.5) mg/dL in the OF group, and 9.3 (0.6) mg/dL in the GCG group. Patients with fibro-osseous jaw tumors including FD, OF, and GCG may have increased risk of PHPT compared to the general population.
CONCLUSION
Patients with benign jaw tumors including FD, OF, and GCG may have increased risk of PHPT compared to the general population. Surgeons treating these benign tumors need to be cognizant of these findings, obtain appropriate laboratory studies, and incorporate multidisciplinary care including endocrinologists, endocrine surgeons, and maxillofacial surgeons.
Topics: Humans; Retrospective Studies; Fibroma, Ossifying; Female; Male; Jaw Neoplasms; Adult; Parathyroid Hormone; Middle Aged; Calcium; Hyperparathyroidism; Granuloma, Giant Cell; Adolescent; Fibrous Dysplasia of Bone; Young Adult; Aged; Child
PubMed: 37989891
DOI: 10.1007/s10006-023-01195-x -
Head and Neck Pathology Dec 2023
Topics: Humans; Fibroma, Ossifying; Mandible; Mandibular Neoplasms; Soft Tissue Neoplasms; Skull Neoplasms
PubMed: 37943466
DOI: 10.1007/s12105-023-01599-x