UNASSIGNED: There is inconsistent evidence regarding the accuracy of GNAS mutations identification for the diagnosis of FD/MAS. This study was performed to estimate the prevalence and diagnostic accuracy of GNAS mutations detection and to preliminarily investigate the genotype-phenotype correlation in FD patients.
UNASSIGNED: Five electronic databases were searched from 1995 to 2024 using search terms related to GNAS and fibrous dysplasia. Observational studies of FD patients undergoing GNAS mutation detection in FD were included.
UNASSIGNED: A total of 878 FD patients were included. The pooled prevalence of GNAS mutations in FD based on the random effects model was 74% (95% CI = 64%-83%). Regarding diagnostic accuracy, a sensitivity of 0.83 (95% CI, 0.65-0.96), specificity of 0.99 (95% CI, 0.98-1.00) and the area under the receiver operating characteristic curve of 98.38% were found. Additionally, meta-analysis and Fisher\'s test showed the GNAS mutation types were significantly associated with FD types (OR = 3.51, 95% CI = 1.05 to 11.72; p < 0.05).
UNASSIGNED: A high detection rate of GNAS mutations occurred in FD, and its detection is reliable for diagnosing FD. Additionally, GNAS mutation type was types were significantly associated with FD type.
UNASSIGNED: Identifier CRD42024553469.

暂无摘要。

UNASSIGNED: Common calvarial lesions include fibrous dysplasia (FD), intraosseous meningioma, osteoma, Langerhans cell histiocytosis (LCH), intraosseous hemangioma, dermoid and epidermoid cyst, and malignancy. Surgical removal with removal of the involved skull is the choice of treatment for these lesions. Previously, the skull defect was repaired using allograft, and alloplastic materials have been replaced with newer polyetheretherketone (PEEK) material, which is more resistant, biocompatible, and can be 3-dimension (3D)--printed. High-resolution 3D printing uses very fine extruders to put materials in fine layers to recreate patients\' anatomy authentically, which gives superior cosmetic outcomes. Our objectives were preoperative planning of craniectomy and reconstruction for calvarial lesions and reconstruction of skull defects using 3D-printed cranioplasty with PEEK materials.
UNASSIGNED: In this series, we describe 11 cases in which skull lesions were removed and reconstructed in the same sitting using a 3D-printed PEEK implant designed preoperatively using high-resolution computer tomography. All the cases were done in the neurosurgery department of Bangabandhu Sheikh Mujib Medical University from 2021 to 2023. Patients were followed up for 6 months after surgery.
UNASSIGNED: Regarding 11 cases, six cases were FD, three cases were intraosseous meningioma, one case was intraosseous hemangioma, and one case was LCH. Average lesion size were 12.73-5.77 cm. Cranioplasty was done with PEEK material. Minor complications were treated conservatively. Seroma, postoperative fever, and nausea were among these.
UNASSIGNED: The human bone-like biocompatibility and resistance to physical forces leads to more frequent use of PEEK, which enables to repair of complex craniofacial defects with better cosmesis. Despite some limitations, the PEEK cranioplasty implant continued to thrive and showed its promise to be an excellent material. Further, research and investment should be put into developing the technique.

UNASSIGNED: Fibrous dysplasia is a benign fibro-osseous lesion where normal bone is replaced with immature dysplastic woven bone and fibrous tissue. Fibrous dysplasia has the potential to involve multiple bones of the craniofacial area in a rare condition. Management of this involvement type should be assessed carefully.
UNASSIGNED: Here, we report a 52-year-old man with progressive and bilateral frontal headache. The radio/pathologic diagnosis revealed fibrous dysplasia of paranasal sinuses with anterior skull-base extension and pneumocephalus. The patient underwent a craniotomy, and 2 weeks after the procedure, the symptoms were alleviated without any complications.
UNASSIGNED: in case of fibrous dysplasia, patients with new onset and/or mild symptoms may have extensive lesions in multiple craniofacial bones.

UNASSIGNED: Benign fibroosseous lesions (BFOLs) encompass a heterogenous collection of bone conditions characterized by replacing normal bone with fibro-collagenous tissue with osteoid or woven bone, and cementicles. Despite their clinical significance, the frequency of BFOLs in Saudi Arabia still needs to be assessed.
UNASSIGNED: This retrospective study investigated the frequency and demographics of BFOLs in Riyadh, Saudi Arabia, by retrieving all cases recorded between January 1984 and January 2013 from a single Oral Pathology Laboratory archive.
UNASSIGNED: A total of 64 cases were classified as BFOLs, with a predominance in females (67.2 %) and a median age of 21.5 years. The most prevalent condition identified was fibrous dysplasia (45.31 %), followed by cemento-ossifying fibroma (26.56 %). There were significant sex differences between BFOLs, with a p-value of 0.03. FD was predominantly located in the maxilla (65.5 %), whereas COF was predominantly found in the mandible (82.3 %). Recurrence was observed in 17.2 % of patients with FD, in contrast to no reported recurrence in patients with COF.
UNASSIGNED: This study represents the first exploration of BFOL frequency and demographics in Riyadh, Saudi Arabia, highlighting the need for further investigations to comprehensively understand the nature of these lesions in our population.

Fibrous dysplasia (FD) is a mosaic non-inheritable genetic disorder of the skeleton in which normal bone is replaced by structurally unsound fibro-osseous tissue. There is no curative treatment for FD, partly because its pathophysiology is not yet fully known. We present a simple mathematical model of the disease incorporating its basic known biology, to gain insight on the dynamics of the involved bone-cell populations, and shed light on its pathophysiology. We develop an analytical study of the model and study its basic properties. The existence and stability of steady states are studied, an analysis of sensitivity on the model parameters is done, and different numerical simulations provide findings in agreement with the analytical results. We discuss the model dynamics match with known facts on the disease, and how some open questions could be addressed using the model.

BACKGROUND: Benign notochordal cell tumours (BNCTs) represent a rare entity within the spectrum of bone neoplasms, which typically arise in the axial skeleton. Although these tumours are often benign, their diagnosis and management pose significant challenges due to their histological similarity to more aggressive lesions, such as chordomas. Understanding of the clinical behaviour, diagnostic nuances, and optimal management strategies for BNCTs continues to evolve.
METHODS: Benign notochordal cell tumours of the vertebra are usually asymptomatic and identified on imaging and should be distinguished from chordomas, which has a more aggressive clinical course. This report describes a 15-year-old girl with lumbosacral pain and a diagnosis of a benign notochordal cell tumour, which affects a large part of the S1 vertebra in the lumbar spine, highlighting the diagnostic challenges encountered, the role of radiological and histological investigations, and the ultimate determination of the benign nature of the tumour.
CONCLUSIONS: This report highlights the approach taken for the diagnosis of a benign notochordal cell tumour of the vertebra and the importance of excluding differential diagnoses. By exploring the intricacies of this case, we contribute to the growing body of literature surrounding BNCTs, with the aim of improving clinical awareness and management strategies for this uncommon bone tumour.

BACKGROUND: Mazabraud\'s syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma, and is thought to be associated with mutations of the GNAS gene. To date, only about 100 cases of MS have been reported in the literature, but its standard treatment strategy remains unclear.
METHODS: We report two cases of MS in young women who underwent different treatments based on their symptoms and disease manifestations. The first patient, aged 37, received internal fixation and intravenous bisphosphonate for a pathological fracture of the right femoral neck, excision of a right vastus medialis myxoma was subsequently performed for pain control, and asymptomatic psoas myxomas were monitored without surgery. Genetic testing confirmed a GNAS gene mutation in this patient. The second patient, aged 24, underwent right vastus intermedius muscle myxoma resection, and conservative treatment for fibrous dysplasia of the ilium. These patients were followed-up for 17 months and 3 years, respectively, and are now in a stable condition.
CONCLUSIONS: Various treatments have been selected for MS patients who suffer different symptoms. The main treatment for myxomas is surgical resection, while fibrous dysplasia is selectively treated if the patient experiences pathological fracture or severe pain. However, given the documented instances of malignant transformation of fibrous dysplasia in individuals with MS, close follow-up is necessary.

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.

Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and \'café au lait\' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
UNASSIGNED: Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.