Fibrous dysplasia of bone (FD) is a rare skeletal disorder. Traditional surgical options may have disadvantages such as greater trauma, incomplete curettage and recurrence risk. In this report, we introduce the technique for the treatment of fibrous dysplasia of the femur with Arthroscopic-assisted uni-portal non-coaxial endoscopic surgery (AUNES) and evaluate its feasibility.

We described a 49-year-old female patient with an elliptical lesion measuring approximately 4.3 cm × 4.2 cm in the proximal left femur. Due to the limitations of traditional open surgery-significant trauma, incomplete curettage, and a high risk of recurrence-we performed tumor curettage and bone graft fusion with AUNES assistance for the first time. The AUNES endoscopy provided a clear surgical field, precise lesion boundaries, thorough curettage, and minimal blood loss. Postoperative pathology confirmed fibrous dysplasia. At the 1-month and 3-month postoperative follow-ups, the patient's surgical wound healed well without complications. DR and CT scans showed satisfactory graft placement and bone fusion.

This case report demonstrates that AUNES-assisted tumor lesion curettage and bone grafting fusion surgery for FD is safe and feasible. It offers several advantages, including minimal invasiveness, a wide surgical field, thorough lesion curettage, and a low postoperative recurrence rate.

This study aimed to develop 3 models based on computed tomography (CT) images of patients with craniofacial fibrous dysplasia (CFD): a radiomics model (Model Rad), a deep learning (DL) model (Model DL), and a hybrid radiomics and DL model (Model Rad+DL), and evaluate the ability of these models to distinguish between adolescents with active lesion progression and adults with stable lesion progression.

We retrospectively analyzed preoperative CT scans from 148 CFD patients treated at Shanghai Ninth People's Hospital. The images were processed using 3D-Slicer software to segment and extract regions of interest for radiomics and DL analysis. Feature selection was performed using t-tests, mutual information, correlation tests, and the least absolute shrinkage and selection operator algorithm to develop the 3 models. Model accuracy was evaluated using measurements including the area under the curve (AUC) derived from receiver operating characteristic analysis, sensitivity, specificity, and F1 score. Decision curve analysis (DCA) was conducted to evaluate clinical benefits.

In total, 1,130 radiomics features and 512 DL features were successfully extracted. Model Rad+DL demonstrated superior AUC values compared to Model Rad and Model DL in the training and validation sets. DCA revealed that Model Rad+DL offered excellent clinical benefits when the threshold probability exceeded 20%.

Model Rad+DL exhibits superior potential in evaluating CFD progression, determining the optimal surgical timing for adult CFD patients.

Fibrous dysplasia is an uncommon bone disorder in which medullary bone is replaced by disorganized fibro-osseous tissue. Fibrous dysplasia typically exhibits slow growth that stabilizes with skeletal maturity. We report a case in which rapid progression of a clival lesion otherwise typical for fibrous dysplasia in an adult male led to concern for a malignant rather than a benign lesion.

A 38 year-old white male developed eye pain, and magnetic resonance imaging of the brain was interpreted as normal. A total of 2 years later, the patient again presented with eye pain, and a repeat magnetic resonance imaging study demonstrated interval development of a lesion replacing much of the clivus. Though the lesion appeared fairly typical of fibrous dysplasia, with magnetic resonance imaging and subsequent computed tomography revealing a well-defined and mildly expansile clival lesion, lesions of fibrous dysplasia do not typically appear in skeletally mature patients, and they are generally indolent. On the basis of concern for malignant degeneration or possibly an alternative diagnosis, as the patient had been referred to our center with a diagnosis of clival chordoma, the lesion was treated with endoscopic resection. The diagnosis of typical fibrous dysplasia was ultimately confirmed through histopathological, immunohistochemical, and genetic analysis.

This case demonstrates the potential for development and progression of benign fibrous dysplasia lesions beyond skeletal maturity, a phenomenon rarely reported in literature and not previously demonstrated in the clivus.

The skull base and orbit have complicated anatomical structures where various tumors can occur. The tumor may present with neurological symptoms; however, its diagnosis is clinically difficult owing to accessibility issues. Therefore, diagnostic imaging is crucial in assessing tumors in the skull base and orbit and guiding subsequent management. Notably, some tumors have a predilection for a specific site of origin, and identifying the site of origin on imaging can help narrow the differential diagnosis. At the skull base, chordomas typically occur in the clivus, chondrosarcomas in the paramedian areas, paragangliomas in the jugular foramen, neurogenic tumors, and perineural spread in the neural foramen. Among orbital tumors, cavernous hemangiomas usually occur in the intraconal space, and pleomorphic adenomas and adenoid cystic carcinomas occur in the lacrimal glands. Some skull base and orbital tumors exhibit distinctive imaging features. Chordomas and chondrosarcomas of the skull base show high signal intensities on T2-weighted images, with chondrosarcomas often displaying cartilaginous calcifications. Paragangliomas are characterized by their hypervascular nature. In the orbit, cavernous hemangiomas and pleomorphic adenomas present unique dynamic patterns. Immunoglobulin G4-related disease forms lesions along the nerves. Identifying the tumor origin and its imaging characteristics can help narrow the differential diagnosis of skull base and orbital tumors.

To evaluate the diagnostic performance and inter-reader reliability of the Bone Reporting and Data System (Bone-RADS) for solitary bone lesions on CT.

This retrospective analysis included 179 patients (mean age, 56 ± 18 years; 94 men) who underwent bone biopsies between March 2005 and September 2021. Patients with solitary bone lesions on CT and sufficient histopathology results were included. Two radiologists categorized the bone lesions using the Bone-RADS (1, benign; 4, malignant). The diagnostic performance of the Bone-RADS was calculated using histopathology results as a standard reference. Inter-reader reliability was calculated.

Bone lesions were categorized into two groups: 103 lucent (pathology: 34 benign, 12 intermediate, 54 malignant, and 3 osteomyelitis) and 76 sclerotic/mixed (pathology: 46 benign, 2 intermediate, 26 malignant, and 2 osteomyelitis) lesions. The Bone-RADS for lucent lesions had sensitivities of 95% and 82%, specificities of 11% and 11%, and accuracies of 57% and 50% for readers 1 and 2, respectively. The Bone-RADS for sclerotic/mixed lesions had sensitivities of 75% and 68%, specificities of 27% and 27%, and accuracies of 45% and 42% for readers 1 and 2, respectively. Inter-reader reliability was moderate to very good (κ = 0.744, overall; 0.565, lucent lesions; and 0.851, sclerotic/mixed lesions).

Bone-RADS has a high sensitivity for evaluating malignancy in lucent bone lesions and good inter-reader reliability. However, it has poor specificity and accuracy for both lucent and sclerotic/mixed lesions. A possible explanation is that proposed algorithms heavily depend on clinical features such as pain and history of malignancy.

Fibrous dysplasia is a congenital, non-inherited, benign intramedullary bone lesion in which the normal bone marrow is replaced by abnormal fibro-osseous tissue. The disorder can be monostotic (involving a single bone) or polyostotic (involving multiple bones). As the abnormal fibro-osseous tissue compromises the mechanical strength of bone, it can result in pain, deformity, fractures, or abnormalities in bone mechanics with inappropriate bone alignment. This narrative review attempts to summarize more than 20 years of observations of patients with FD to help pediatric orthopedists establish a care framework that can improve its identification, understand the impact that endocrinopathies can have on its clinical presentation, and optimize the management of bone disorders. Our focus is specifically on orthopedic manifestations of FD and modern management alternatives. The past 20 years have provided major advances in understanding of fibrous dysplasia (FD), and it is clear that the pediatric orthopedist's role remains highly relevant in the management of all types of FD. Surgical treatment remains appropriate when pain is unresponsive to other medical treatments, when a pathological fracture is impending or has happened, when a deformity is worsening or has formed, or when there is a suspicion of malignant transformation. The pediatric orthopedist must be aware, therefore, of the particularities of the different bones on which they may be called to intervene, and they should give very careful consideration to their operative strategy, which must be adjusted to the biological and static characteristics of the bone.

To determine the utility of a triangular margin as an imaging diagnostic feature for fibrous dysplasia.

We retrospectively reviewed all surgically biopsied or managed benign and malignant bone tumors by a single orthopedic oncologist over 19 years (2003 to 2022). A musculoskeletal radiologist and an orthopedic oncologist, both with >10 years of experience, retrospectively evaluated all imaging in consensus. Groups were compared using the χ2 test.

There were a total of 152 subjects [mean age 49±21 (range 7.8 to 91) years]; 80 (53%) females and 72 (47%) males. There were 52 subjects with fibrous dysplasia, 31 subjects with other benign bone tumors, and 69 subjects with malignant bone tumors. The sensitivity and specificity of a triangular margin for distinguishing fibrous dysplasia from other benign or malignant bone tumors were 74% and 96% on radiographs, 73% and 100% on CT, and 78% and 91% on MRI, respectively. The triangular margin was more prevalent in fibrous dysplasia (85%) versus benign (16%) and malignant (1.6%) primary bone tumors in all 3 modalities (P<0.001). Multivariate analysis of the aggregated imaging data suggests that if a lesion has a triangular margin, it is 14 times more likely to be a fibrous dysplasia than another benign bone tumor (P=0.012).

The presence of a triangular margin could increase a radiologist's confidence that a bone tumor is fibrous dysplasia.

To propose a revised bone reporting and data system (Bone-RADS) and evaluate its diagnostic performance and inter-reader reliability compared to the original Bone-RADS for solitary bone lesions on CT.

This retrospective study included 159 adult patients (mean age: 56 ± 19 years; 88 men) who underwent bone biopsy for solitary bone lesions between March 2005 and September 2021. Two radiologists (R1/2) independently categorized the lesions twice, once using the original Bone-RADS and once using the revised version. Lesions were classified as follows: (1, benign; 2, incompletely assessed; 3, indeterminate; 4, malignancy or requiring treatment). The revised Bone-RADS excluded the original criteria for lesion related pain and history of malignancy. Diagnostic performance was assessed using histopathology as the reference standard, and inter-reader reliability was analyzed.

The bone lesions included 96 lucent and 63 sclerotic/mixed lesions. Sensitivity showed no significant difference between the original and revised Bone-RADS for both readers across lucent and sclerotic/mixed lesions (all P ≥ .05). However, the specificity of the revised Bone-RADS was significantly higher than that of the original (lucent: 11% vs. 50% [R1], 11% vs. 46% [R2]; sclerotic/mixed: 32% vs. 92% [R1], 32% vs. 86% [R2]). Other performance metrics, including positive/negative predictive value and accuracy, were also higher in the revised Bone-RADS. Inter-reader reliability was higher for the revised Bone-RADS compared to the original (κ = .744 vs .854).

The revised Bone-RADS significantly improved specificity while maintaining sensitivity compared to the original version.

Fibrous dysplasia (FD) is a benign medullary fibro-osseous anomaly that compromises the mechanical strength of bones, especially the long bones that bear strong mechanical stresses. It can lead to an inability to remodel immature bone into mature lamellar bone, resulting in inappropriate bone alignment in response to mechanical stresses. This case study describes a rare case of polyostotic FD presenting with an epiphyseal lesion of the proximal femoral head in its weight-bearing zone, accompanied by an unconventional femoral malrotation. The present case leads us to recommend that clinicians should not underestimate the occurrence of other deformities, such as the retrotorsion or flexion deformities that can compromise bone structure and the hip's biomechanics. Finally, the involvement of the epiphysis is probably more common than usually thought, introducing an additional complexity since juxta-articular lesions in weight-bearing joints may collapse, compromising articular congruence and function. To minimise this risk, bone scintigraphy and MRI should play a critical role in the patient's workup, evaluation, prognosis and follow-up.

Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS) frequently involves the craniofacial skeleton. Craniofacial fibrous dysplasia lesions exhibit diverse imaging characteristics on multimodality evaluation, utilizing radiographs, computed tomography (CT), magnetic resonance imaging (MRI), and 18F-sodium fluoride positron emission tomography (18F-NaF PET). A multimodal imaging classification of craniofacial fibrous dysplasia lesions may offer clinical insights into the types of lesions that are (1) prone to progression, (2) amenable to intervention (i.e., pharmacological or surgical), or (3) associated with symptoms such as pain. In this prospective, preliminary single site study of 15 patients with FD/MAS, the heterogeneity of craniofacial lesions (N = 35) was assessed using a combination of 18F-NaF PET, MRI, and CT. A k-means clustering algorithm was used to categorize lesions based on imaging characteristics. Clustering analysis revealed three types of lesion based on the magnitude of the regional 18F-NaF standardized uptake values (SUV), signal intensities on T1-weighted and fluid-sensitive sequences, and appearance on CT (lucent, sclerotic, and/or ground glass). This preliminary study provides a foundation for future longitudinal natural history or treatment studies, where the prognostic value of baseline craniofacial fibrous dysplasia imaging characteristics and clinical symptomatology can be further evaluated.

Fibrous dysplasia is a slow-progressing benign condition characterized by abnormal bone formation that leads to some skeletal disorders. Although some of the fibrous dysplasia have unusual clinical and radiographic features that can lead to a challenging diagnosis, most lesions reveal an expansile bone defect due to cortex thinning. This report presented a case of monostotic fibrous dysplasia of a 43-year-old woman with involvement of the right maxillary jaw and sinuses, which indicated unusual histopathological features. The patient was referred to the Department of Oral and Maxillofacial Surgery of Tehran University of Medical Sciences (Tehran, Iran) in 2022. Radiological and histological findings were discussed. The unusual histomorphic pattern of the lesion caused uncertainty and resulted in a missed definitive diagnosis in the primary biopsy. It was highlighted that awareness of rare histologic variants in fibro-osseous lesions especially fibrous dysplasia was required to improve diagnostic confidence.

Craniofacial fibrous dysplasia (CFD) typically occurs in the facial bones and anterior cranial vault and can produce both disfigurement and functional limitations for patients disfigurement. Treatment consists of reducing the abnormal bone. Bone contouring can become challenging when the exposure does not extend to the corresponding normal contralateral structures for comparison or when normal landmarks are not available, which may compromise the overall aesthetic outcome. We describe a technique using dynamic mirroring to accurately contour the involved part of the cranium in a case of giant CFD.

A 49-year-old male presented with a giant deforming fibrous dysplasia of the right mastoid and parieto-temporo-occiput that was causing functional limitations due to the size of the bony mass. This was managed with multidisciplinary bony reduction. Several neurovascular structures were in proximity to the areas of planned drilling of the expansile lesion, and dynamic mirroring of the uninvolved left skull was utilized to maximize safety and symmetry of reduction. High-speed drilling of the right occipital bone was performed until the navigation system alerted the surgeon that symmetric depth had been achieved. There were no complications from the procedure and this technique maximized the limits of symmetric reduction without significantly increasing surgical complexity or duration.

Dynamic mirroring of bony structures in the posterior cranium is not commonly employed in neurosurgical practice. This technique may help improve the aesthetic outcomes of bony reduction in craniofacial dysplasia and a variety of similarly managed bony lesions, contour cranioplasties, and in unilateral craniosynostosis surgery.

Fibrous dysplasia (FD) is often difficult for skull base surgeons to address. FD arises due to the abnormal proliferation of fibroblasts, ultimately resulting in immature osseous tissue replacing normal cancellous bone. When the skull base is involved, it can result in cranial nerve compression. FD affecting the optic canal and optic nerve is the most concerning as new onset of vision loss is considered a surgical emergency. The prevalence of FD is approximately 3.6 per 1,000,000. The most severe implications of this disease are neurological deficits due to cranial nerve compression, cosmetic appearance, and high recurrence rates even in the setting of surgical and medical therapy interventions.

A PubMed search of "pediatric fibrous dysplasia management" using MESH Terms was conducted. Articles were excluded for non-English languages, inaccessibility, and events/erratum/letters to the editor. Included articles were in English, as well as encompassed pediatric FD case reports or comprehensive reviews of FD that discussed pediatric presentations.

A total of 109 articles were reviewed, and 44 were included in the final review. Most articles were case reports. There is a clear need for guidelines regarding surgical intervention, especially in the pediatric population, where hormonal fluctuation can influence rates of recurrence and bony deformity. Overall, most surgeons recommend close observation with biomarkers and radiographic imaging for asymptomatic patients until at least the age of 16 years old. Conservative methods, such as RANK-L inhibitors, can be utilized to decrease growth with some success, especially in older adolescents.

This review is an update on this disease and its presentations, imaging findings, and treatment options. The current literature lacks clear guidance on management, especially in regard to surgical intervention or recurrence monitoring algorithms.

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.

Polyostotic fibrous dysplasia (PFD) is a scarce noncancerous bone condition characterized by the failure to form mature lamellar bone and arrest in the form of woven bone, resulting in deformities and functional limitations. Extreme forms of craniofacial fibrous dysplasia can lead to leontiasis ossea, an exceptionally uncommon presentation. We report a case of a 32-year-old man displaying facial abnormalities indicative of leontiasis ossea. Through radiographic and histopathological assessments, the diagnosis of PFD was confirmed. Surgical intervention was undertaken to address symptoms and enhance facial appearance. This case underscores the diagnostic and therapeutic complexities associated with PFD featuring leontiasis ossea and underscores the significance of a collaborative medical approach.

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.

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.

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.

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.

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.

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.

Numerous anatomical variants are described around the knee, many of which look like bony lesions, so it is important to know them to avoid unnecessary complementary tests and inadequate management. Likewise, several alterations in relation to normal development can also simulate bone lesions.However, numerous pathologic processes frequently affect the knee, including traumatic, inflammatory, infectious, and tumor pathology. Many of these entities show typical radiologic features that facilitate their diagnosis. In other cases, a correct differential diagnosis is necessary for proper clinical management.Despite the availability of increasingly advanced imaging techniques, plain radiography is still the technique of choice in the initial study of many of these pathologies. This article reviews the radiologic characteristics of tumor and nontumor lesions that may appear around the knee to make a correct diagnosis and avoid unnecessary complementary radiologic examinations and inadequate clinical management.

Orbital pathologies can be broadly classified as ocular lesions, extraocular soft-tissue pathologies (non-neoplastic and neoplastic), and bony and traumatic lesions. In this paper, we discuss the key imaging features and differential diagnoses of bony and traumatic lesions of the pediatric orbit and globe, emphasizing the role of CT and MRI as the primary imaging modalities. In addition, we highlight the adjunctive role of ocular sonography in the diagnosis of intraocular foreign bodies and discuss the primary role of sonography in the diagnosis of traumatic retinal detachment.

Fibrous dysplasia (FD) is a mosaic skeletal disorder caused by somatic activating variants of GNAS encoding for Gαs and leading to excessive cyclic adenosine monophosphate signaling in bone-marrow stromal cells (BMSCs). The effect of Gαs activation in the BMSC transcriptome and how it influences FD lesion microenvironment are unclear. We analyzed changes induced by Gαs activation in the BMSC transcriptome and secretome. RNAseq analysis of differential gene expression of cultured BMSCs from patients with FD and healthy volunteers, and from an inducible mouse model of FD, was performed, and the transcriptomic profiles of both models were combined to build a robust FD BMSC genetic signature. Pathways related to Gαs activation, cytokine signaling, and extracellular matrix deposition were identified. To assess the modulation of several key secreted factors in FD pathogenesis, cytokines and other factors were measured in culture media. Cytokines were also screened in a collection of plasma samples from patients with FD, and positive correlations of several cytokines to their disease burden score, as well as to one another and bone turnover markers, were found. These data support the pro-inflammatory, pro-osteoclastic behavior of FD BMSCs and point to several cytokines and other secreted factors as possible therapeutic targets and/or circulating biomarkers for FD.

Denosumab is an effective treatment for many receptor activator of nuclear factor kappa-B ligand (RANKL)-mediated disorders but there are potential safety considerations and limited data to guide its use in children and adolescents.

This document seeks to summarize the evidence and provide expert opinion on safe and appropriate use of denosumab in pediatric RANKL-mediated disorders.

Ten experts in pediatric bone and mineral medicine from 6 countries with experience in the use of denosumab participated in the creation of this document.

Data were sourced from the published literature, primarily consisting of case reports/series and review articles because of the lack of higher level evidence. Expert opinion of the authors was used substantially when no published data were available.

Denosumab is an effective treatment for RANKL-mediated disorders in children and adolescents but is often not curative and, in some cases, is best used in conjunction with surgical or other medical treatments. Careful multidisciplinary planning is required to define the goals of treatment and expert oversight needed to manage the risk of mineral abnormalities. Substantive, collaborative research efforts are needed to determine optimal treatment regimens and minimize risks.

Aneurysmal bone cyst (ABC) is a non-malignant, locally destructive, blood-filled lesion in the bone that tends to grow aggressively. A young girl presented with a rapid recurrence after aggressive surgery of a large symptomatic sacral-spinal ABC. After a multidisciplinary tumour board, she was successfully treated with sclerotherapy and monthly intravenous denosumab. The patient has maintained asymptomatic for over 36 months now and has returned to full activity and strength. She never required surgery and has had radiologic resolution of the lesions. Treatment of recurrent ABC requires a multidisciplinary team approach. We believe this to be the first report to use this combined therapy to provide an alternative to morbid surgery for children with ABCs.

A rare benign bone condition called monostotic fibrous dysplasia (MFD) is characterized by the growth of fibrous tissue in place of a normal bone. It may lead to deformity in the affected bone, pain, and a pathologic fracture due to bone weakness. Hereunder, a case report of MFD in a 17-year-old male adolescent presenting to the hospital with localized bone pain and swelling in his right tibia is presented. After clinical examination and radiographic imaging, a provisional diagnosis of benign osteolytic lesion was considered. A magnetic resonance imaging (MRI) scan of the leg suggested the possibility of fibrous dysplasia or adamantinoma. The patient was managed with an intralesional curettage of the dysplastic bone and packing the cavity with blocks of a synthetic bone. The excised material was sent for histopathology, which established the diagnosis of fibrous dysplasia.

Fibrous dysplasia (FD) is a mosaic skeletal disorder caused by somatic activating variants in GNAS, encoding for Gαs, which leads to excessive cAMP signaling in bone marrow stromal cells (BMSCs). Despite advancements in our understanding of FD pathophysiology, the effect of Gαs activation in the BMSC transcriptome remains unclear, as well as how this translates into their local influence in the lesional microenvironment. In this study, we analyzed changes induced by Gαs activation in BMSC transcriptome and performed a comprehensive analysis of their production of cytokines and other secreted factors. We performed RNAseq of cultured BMSCs from patients with FD and healthy volunteers, and from an inducible mouse model of FD, and combined their transcriptomic profiles to build a robust FD BMSC genetic signature. Pathways related to Gαs activation, cytokine signaling, and extracellular matrix deposition were identified. In addition, a comprehensive profile of their secreted cytokines and other factors was performed to identify modulation of several key factors we hypothesized to be involved in FD pathogenesis. We also screened circulating cytokines in a collection of plasma samples from patients with FD, finding positive correlations of several cytokines to their disease burden score, as well as to one another and bone turnover markers. Overall, these data support a pro-inflammatory, pro-osteoclastic behavior of BMSCs bearing hyperactive Gαs variants, and point to several cytokines and other secreted factors as possible therapeutic targets and/or circulating biomarkers for FD.

The purpose of this review is to provide a comprehensive overview into the diagnosis and management of fibrous dysplasia (FD) in children.

FD is a mosaic disorder arising from somatic Gα s variants, leading to impaired osteogenic cell differentiation. Fibro-osseous lesions expand during childhood and reach final disease burden in early adulthood. The mainstay of treatment focuses on surgical correction of skeletal deformities, physiatric care, and medical management of associated hyperfunctioning endocrinopathies. Bisphosphonates may be helpful to treat bone pain, but do not alter lesion quality or progression. Emerging evidence suggests that the RANKL inhibitor denosumab may be effective in improving lesion activity and mineralization, however further studies are needed to determine the potential utility of this and other novel therapies, particularly in children with FD.

Management of children with FD has unique challenges related to skeletal growth and age-related lesion progression. Inclusion of children in clinical research is critical to develop effective treatment strategies to treat FD lesions and prevent their development.

The co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic meningioma resulting in a dilemma of prompt diagnosis and appropriate intervention.

We conducted a retrospective review of the data from 21 patients with concomitant meningioma and CFD who were treated at Beijing Tiantan Hospital from 2003 to 2021. We summarized their clinicopathological features and performed a comprehensive literature review. Additionally, we tested the characteristic pathogenic variants in exon 8 and 9 of GNAS gene and the expression of corresponding α-subunit of the stimulatory G protein (Gαs) related to CFD to explore the potential interactions between these two diseases.

The cohort comprised 4 men and 17 women (mean age, 45.14 years). CFD most commonly involved the sphenoid bone (n = 10) and meningiomas were predominantly located at the skull base (n = 12). Surgical treatment was performed in 4 CFD lesions and 14 meningiomas. Simpson grade I-II resection was achieved in 12 out of the 14 resected meningiomas and almost all of them were classified as WHO I grade (n = 13). The mean follow-up duration was 56.89 months and recurrence was noticed in 2 cases. Genetic study was conducted in 7 tumor specimens and immunohistochemistry was accomplished in 8 samples showing that though GNAS variant was not detected, Gαs protein were positively expressed in different degrees.

We presented an uncommon case series of co-diagnosed meningioma and CFD and provided a detailed description of its clinicopathological features, treatment strategy and prognosis. Although a definite causative relationship had not been established, possible genetic or environmental interplay between these two diseases could not be excluded. It was challenging to initiate prompt diagnosis and appropriate treatment for concomitant meningioma and CFD because of its similar radiological manifestations to meningioma with reactive hyperostosis. Personalized and multi-disciplinary management strategies should be adopted for the co-existence of meningioma and CFD.

Skull lesions in pediatric population are common findings on imaging and sometimes with heterogeneous manifestations, constituting a diagnostic challenge. Some lesions can be misinterpreted for their aggressiveness, as with larger lesions eroding cortical bone, containing soft tissue components, leading to excessive and, in some cases, invasive inappropriate etiological investigation. In this review, we present multiple several conditions that may present as skull lesions or pseudolesions, organized by groups (anatomic variants, congenital and development disorders, traumatic injuries, vascular issues, infectious conditions, and tumoral processes). Anatomic variants are common imaging findings that must be recognized by the neuroradiologist. Congenital malformations are rare conditions, such as aplasia cutis congenita and sinus pericranii, usually seen at earlier ages, the majority of which are benign findings. In case of trauma, cephalohematoma, growing skull fractures, and posttraumatic lytic lesions should be considered. Osteomyelitis tends to be locally aggressive and may mimic malignancy, in which cases, the clinical history can be the key to diagnosis. Vascular (sickle cell disease) and tumoral (aneurismal bone cyst, eosinophilic granuloma, metastases) lesions are relatively rare lesions but should be considered in the differential diagnosis, in the presence of certain imaging findings. The main difficulty is the differentiation between the benign and malignant nature; therefore, the main objective of this pictorial essay is to review the main skull lytic lesions found in pediatric age, describing the main findings in different imaging modalities (CT and MRI), allowing the neuroradiologist greater confidence in establishing the differential diagnosis, through a systematic and simple characterization of the lesions.

Fibrous dysplasia (FD) typically presents unilaterally in the lower limbs, or in the skull, mandible, or pelvis. Bilateral presentation is rarely reported. Most cases are diagnosed in the teens with 75% of patients diagnosed before the age of 30 years. In this case, a 63-year-old woman with suspected diagnosis of malignancy was referred to 99mTc-MDP scan and found to have polyostotic FD in bilateral upper extremities. Nuclear medicine can play an important role in diagnosing FD cases with atypical presentation and help risk stratification for more aggressive transformation.

This case report presents a rare and challenging manifestation of polyostotic fibrous dysplasia (FD), a skeletal developmental anomaly characterized by the proliferation of fibrous connective tissue intermingled with irregular bony trabeculae. While monostotic FD is more common, polyostotic FD can occur in the context of McCune-Albright syndrome, a multisystem developmental disorder. Our patient, a 55-year-old female with a history of diabetes, hypothyroidism, and dyslipidemia, presented with progressively worsening dysphagia, sternal pain, and swelling over three years. Clinical examination revealed a tender and hard swelling in the upper sternal area, prompting further evaluation. Laboratory results, including bone turnover markers, were unremarkable. Imaging studies unveiled a sizable anterior mediastinal lesion with heterogeneous enhancement and coarse calcifications, initially raising concerns of malignancy. Subsequent positron emission tomography scan findings confirmed FD involvement in both the sternum and right femur. Histopathology of the mediastinal mass revealed a spindle cell neoplasm with bony metaplasia, consistent with FD, supported by immunohistochemistry. A multidisciplinary team affirmed the diagnosis of polyostotic FD, and follow-up imaging after one year demonstrated no significant change in lesion size, confirming a benign etiology. While bisphosphonate therapy was planned, regrettably, the patient was lost to follow-up. This case underscores the importance of a comprehensive, multidisciplinary approach in diagnosing and managing complex presentations of FD, ultimately contributing to improved patient care and outcomes in such instances.

Skeletal metastases due to prostate cancer (PCa) are more commonly osteoblastic than osteolytic. In the rarer cases of osteolytic skeletal metastasis of PCa, transition to osteoblastic phenotype occurs following treatment, which indicates successful healing. In this report, we present a case of spontaneous osteolytic to osteoblastic evolution of PCa skeletal metastasis without treatment in a patient with recurrence of PCa. Our patient is a 59-year-old male who had a robotic radical prostatectomy in July 2014 for a T2c adenocarcinoma of the prostate gland (Gleason score = 4 + 3). He had adjuvant pelvic radiotherapy in January 2015 due to prostate-specific antigen (PSA) persistence. PSA began to rise in October 2015. An 18 F-fluciclovine positron emission tomography/computed tomography (PET/CT) scan obtained in June 2017 at a PSA of 0.5 ng/mL was negative. Repeat 18 F-fluciclovine PET/CT of February 2020 at PSA of 3.72 ng/mL showed prostate bed recurrence and a nonavid osteolytic left inferior pubic ramus lesion. 18F radiohybrid prostate-specific membrane antigen ( 18 F-rhPSMA) PET/CT scan of August 2020 performed as part of an ongoing clinical trial confirmed local prostate bed recurrence with a low-grade radiotracer uptake in the osteolytic left inferior pubic ramus bone lesion. Without salvage therapy, 18 F-fluciclovine PET/CT of October 2020 and March 2022 shows progressive sclerosis in the left pubic ramus lesion. An osteolytic to osteoblastic transition of a bone lesion as shown in this patient calls for a rethink in our understanding of untreated PCa skeletal metastasis progression. This case provides novel insight into the understanding of the temporal evolution of skeletal metastasis and calls for further research.

Fibrous dysplasia (FD) is a fibro-osseous disorder that manifests with distinct or overlapping clinical patterns. FD may be monostotic or polyostotic and commonly associated with syndromes such as McCune-Albright syndrome and Mazabraud syndrome. We report a case of polyostotic FD with bilateral involvement of craniofacial bones in a distinct pattern and propose this characteristic appearance as the 'eye mask sign' on 99mTc-Methylene Diphosphonate (MDP) skeletal scintigraphy and SPECT/CT. Other unusual skeletal scintigraphic features noted in this case are also described (Figs. 1, 2, and 3).

Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors have been associated with its onset and progression. Perturbation of cell-cell signaling networks and response outputs leading to disrupted building blocks, incoherent multi-level organization, and loss of rigid structural motifs in mineralized tissues are factors that have been identified to participate in FD induction. In more recent years, novel insights into the unique biology of FD are transforming our understandings of its pathology, natural discourse of the disease, and treatment prospects. Herein, we built upon existing knowledge with recent findings to review clinical, etiologic, and histological features of FD and discussed known and potential mechanisms underlying FD manifestations. Subsequently, we ended on a note of optimism by highlighting emerging therapeutic approaches aimed at either halting or ameliorating disease progression.

Aneurysmal bone cyst (ABC) is a relatively rare, benign bone tumor that occurs exceptionally in the hands and feet. The objective of this article is to present clinical, radiological, histopathological features and management of a series of 14 primary ABC cases in these unusual locations. Eight cases occurred in hands and six in feet. We present the first reported subungual case to occur in the hand. The average age of the patients was 26 years (range 7 to 49), with half being over the age of twenty at diagnosis. The male to female ration was 9:5. In radiological terms, ABC appeared as an expansive lesion with internal septa and without cortical disruption. Twelve cases displayed the classic multicystic morphology and two cases were of the solid variant. "Blue bone" was detected in 50 % of the specimens. Treatment consisted of curettage, excision, or amputation in all cases. Recurrence rate was observed in 35 % of the cases, with the similar ABC morphology as the original samples. New therapeutic options have been proposed on their own or in combination with surgery to reduce local recurrence rates.

Lesions of the paediatric cranial vault are diverse both in their presentation and aetiology. As such, they pose a diagnostic challenge to the paediatric neurosurgeon and neuroradiologist. In this article, we delineate the spectrum of paediatric calvarial pathology into four distinct groups: (1) lytic lesion(s); (2) focal sclerotic lesion(s); (3) diffuse cranial vault sclerosis; and (4) abnormal shape of the cranial vault. It is our aim that this more pragmatic, algorithmic approach may mitigate diagnostic uncertainty and aid the more accurate diagnosis of paediatric calvarial lesions.

Fibrous dysplasia (FD) is a rare skeletal disorder characterized by abnormal fibro-osseous connective tissue replacing normal bone. Despite its benign behavior, craniofacial FD can cause morphological disfigurement, headache, and even blindness as a result of the produced mass effect. Surgical resection is recommended when the patient shows apparent clinical symptoms or aggravating facial asymmetry. Postoperative complications have been reported, such as hematoma, surgical site infection, abscess formation, resorption of the bone graft used for reconstruction, and recurrence. An aneurysmal bone cyst (ABC) is a rare benign bony lesion that can occur secondary to preexisting bone tumor. Secondary ABCs in craniofacial FD are extremely rare in the literature, accounting for less than 30, all of which are either case reports or series. We report an extremely rare case of symptomatic secondary ABC arising from craniofacial FD that had been misdiagnosed with abscess formation or recurrence and was surgically removed. Notably, 17 years elapsed between the primary surgery and the complication of secondary ABC. The patient underwent total removal of secondary ABC. After surgery, symptoms were relieved, with no recurrence observed during a 6-month follow-up.

Bone microarchitecture has several clinical implications over and above estimating bone strength. Computed tomography (CT) analysis mainly uses high-resolution peripheral quantitative CT and micro-CT, research imaging techniques, most often limited to peripheral skeleton assessment. Ultra-high-resolution (UHR) CT and photon-counting detector CT, two commercially available techniques, provide images that can approach the spatial resolution of the trabeculae, bringing bone microarchitecture analysis into clinical practice and improving depiction of bone vascularization, tumor matrix, and cortical and periosteal bone. This review presents bone microarchitecture anatomy, principles of analysis, reference measurements, and an update on the performance and potential clinical applications of these new CT techniques. We also share our clinical experience and technical considerations using an UHR-CT device.

Prostate-specific membrane antigen (PSMA) is a transmembrane protein expressed in normal prostate cells and overexpressed in prostate cancer. Consequently, it is an important tool in the evaluation of prostate cancer, including the staging of high-risk patients and the assessment of biochemical recurrence. Despite the "specific" designation, benign musculoskeletal conditions, such as fractures, osteodegenerative changes, and fibrous dysplasia, can also show PSMA uptake, which can lead to misinterpretation of the imaging findings. Therefore, radiologists must be aware of these potential pitfalls, understand their causes, and fully analyze their morphologic features on unfused computed tomography (CT) and magnetic resonance imaging scans to correctly interpret the examination. In this pictorial essay, we review the basic characteristics of the 68Ga-PSMA positron-emission tomography/CT (PET/CT) radiotracer, discuss potential causes of false-positive findings on 68Ga-PSMA PET/CT in the musculoskeletal system, and illustrate the corresponding imaging findings.

The skull base provides a platform for supporting the brain while serving as a conduit for major neurovascular structures. In addition to malignant lesions originating in the skull base, there are many benign entities and developmental variants that may simulate disease. Therefore, a basic understanding of the relevant embryology is essential. Lesions centered in the skull base can extend to the adjacent intracranial and extracranial compartments; conversely, the skull base can be secondarily involved by primary extracranial and intracranial disease. CT and MRI are the mainstay imaging methods and are complementary in the evaluation of skull base lesions. Advances in cross-sectional imaging have been crucial in the management of patients with skull base pathology, as this represents a complex anatomical area that is hidden from direct clinical exam. Furthermore, the clinician must rely on imaging studies for therapy planning and to monitor treatment response. It is crucial to have a thorough understanding of skull base anatomy and its various pathologies, as well as to recognize the appearance of treatment-related changes. In this review, we aim to describe skull base tumors and tumor-like lesions in an anatomical compartmental approach and present imaging methods that aid in diagnosis, management, and follow-up.

McCune-Albright syndrome (MAS) is a rare sporadic condition defined by the classic triad of fibrous dysplasia of bone, café au lait skin macules, and hyperfunctioning endocrinopathies. The molecular basis of MAS has been ascribed to the post-zygotic somatic gain-of-function mutations in the GNAS gene, which encodes the alpha subunit of G proteins, leading to constitutive activation of several G Protein-Coupled Receptors (GPCRs). The co-occurrence of two of the above-mentioned cardinal clinical manifestations sets the diagnosis at the clinical level. In this case report, we describe a 27-month-old girl who presented with gonadotropin-independent precocious puberty secondary to an estrogen-secreting ovarian cyst, a café au lait skin macule and growth hormone, and prolactin excess, and we provide an updated review of the scientific literature on the clinical features, diagnostic work-up, and therapeutic management of MAS.

This study aims to review diagnosis, potential complications, and clinical management in craniofacial fibrous dysplasia.

Fibrous dysplasia (FD) is a rare mosaic disorder in which normal bone and marrow are replaced with expansile fibro-osseous lesions. Disease presents along a broad spectrum and may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). The craniofacial skeleton is one of the most commonly impacted areas in FD, and its functional and anatomical complexities create unique challenges for diagnosis and management. This review summarizes current approaches to diagnosis and management in FD/MAS, with emphasis on the clinical and therapeutic implications for the craniofacial skeleton.

The authors present the case of a middle-aged woman with subacute progressive swelling of the OD associated with pain and severely limited duction in all gazes. MRI demonstrated a ~3 cm circumscribed mass in the extraconal space, which displaced and distorted the globe and impinged upon ocular adnexa. She underwent lateral orbitotomy with bone osteotomy to remove the mass, and subsequent histopathologic examination showed woven bone set within a fibrotic background, microscopic features of fibrous dysplasia. Fibrous dysplasia is characterized by abnormal scar-like bony proliferation, typically within a preexisting structure of the skeletal system. To the authors' knowledge, this represents the first example of fibrous dysplasia presenting as an orbital mass unconnected to the craniofacial skeleton.

There are numerous bone tumors in the pediatric population, with imaging playing an essential role in diagnosis and management. Our understanding of certain bone tumors has rapidly evolved over the past decade with advancements in next-generation genetic sequencing techniques. This increased level of understanding has altered the nomenclature, management approach, and prognosis of certain lesions. We provide a detailed update of bone tumors that occur in the pediatric population with emphasis on the recently released nomenclature provided in the 5th edition of the World Health Organization Classification of Soft Tissue and Bone Tumours. We discuss other mesenchymal tumors of bone, hematopoietic neoplasms of bone, and WHO classification of undifferentiated small round cell sarcomas of bone. We have detailed osteogenic tumors and osteoclastic giant cell-rich tumors, as well as notochordal tumors, chondrogenic tumors, and vascular tumors of the bone in separate manuscripts.