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.

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.
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.
CONCLUSIONS: Our combined model effectively differentiates between FD and OF, offering a noninvasive and efficient approach to clinical decision-making.

Osteofibrous dysplasia (OFD) is a rare, benign, self-limited bone disorder with a relatively low incidence, accounting for approximately 0.2% of all primary bone tumors. It was frequently found intra-cortical of the mid-shaft of the tibia. OFD can also occur in other skeletal regions, including the fibula, ulna, radius, femur, humerus, ischium, rib, tarsus, metatarsals, vertebral, and capitate. OFD can present with asymptomatic, mass, pain, swelling, deformity, and even pathological fracture. OFD might be misdiagnosed as adamantinoma (AD) and because they are three subtypes origin from the same family of bone tumors and have similar imaging features. Moreover, pathology could provide evidence for an accurate diagnosis of OFD, but misdiagnosis may occur due to small sampling materials. To date, few studies have comprehensively introduced the epidemiology, clinical manifestations, pathogenesis, radiological features, pathology, and treatment for OFD. We herein discuss clinical signs, diagnosis methods, and treatment options of OFD to improve the understanding of OFD, which is helpful for accurate diagnosis and appropriate treatment.

OBJECTIVE: We report a case of fibrous dysplasia (FD) with aneurysmal bone cyst (ABC)-like change in a child with orbital involvement, review the related cases, and discuss clinical features, therapy, and prognosis of this disease.
METHODS: A 10-year-old girl had right proptosis (degree of exophthalmos: OD 16 mm, OS 13 mm) and limited vision (visual acuity: OD 1.0, OS 0.8) without trauma. Preoperative CT showed a 5.0*4.3 cm right-sided crania-orbital communicating tumor. MRI indicated a well-defined multicystic mass with scattered fluid levels and soap bubble-like alterations. The child underwent total tumor resection and orbital parietal titanium mesh reconstruction. At 20 months of follow-up, the child has recovered from ocular problems, and the tumor has not recurred.
CONCLUSIONS: FD combined with ABC rarely occurs in orbit and generally begins with ocular symptoms. The etiology is uncertain. Early diagnosis and surgery are essential. Complete resection is suggested whenever possible because residual lesions may recur.

This study presents the clinical characteristics, imaging manifestations, and surgical experience in 38 patients diagnosed with craniofacial fibrous dysplasia in fronto-orbital region (foFD).
We retrospectively analyzed the clinical data from 38 patients who had surgery for foFD. The surgical procedure typically involved extensive tumor removal, followed by immediate reconstruction of the frontal bone and orbit using synthetic materials. Additionally, 9 patients underwent simultaneous microscopic decompression of the optic canal.
Common clinical manifestations included progressive fronto-orbital bone deformity (35), proptosis (28), orbital dystopia (21), and visual impairment (9). The disease primarily affecting the frontal bone (38), the sphenoid bone (28), and the ethmoid bone (24). The optic canal was involved in 9 patients with functional impairment. Computed tomography scans in all 38 cases revealed satisfactory repair material positioning and complete resolution of frontal deformities. Among the 9 patients who underwent optic canal decompression, 7 experienced partial recovery of visual acuity after surgery.
In the surgical treatment of foFD, it is crucial to achieve maximal bone resection and repair skull defects, while decompressing the optic canal can provide significant benefits for patients with decreased visual function preoperatively. The use of preformed artificial materials offers advantages in aesthetic restoration after lesion excision.

BACKGROUND: Fibrous dysplasia associated with aneurysmal bone cyst (ABC)-like changes in the right proximal femur has a low incidence. It is considered more difficult to make early diagnosis than for single fibrous dysplasia.
METHODS: A 14-year-old woman was admitted because of persistent pain in the right hip and abnormal gait over the previous 2 mo. She had no history of present or past illness. Preoperative photography, enhanced computed tomography, and magnetic resonance imaging showed ground-glass appearance with cortical scalloping and expansion of the right proximal femur and femoral neck. Pathological examination by preoperative puncture biopsy revealed fibrous dysplasia of the right proximal femur. The patient was diagnosed with fibrous dysplasia based on medical history, physical examination, and results of laboratory, imaging and pathological examinations. According to final pathological examination, the patient was diagnosed with fibrous dysplasia of the right proximal femur associated with ABC. Curettage and allograft along with fixation of compression screws was performed for fibrous dysplasia associated with ABC-like changes. No obvious allograft absorption, loosening of fixation, or secondary fracture were observed during 6-months\' follow-up with re-examination by plain radiography and computed tomography. Fibrous dysplasia associated with ABC-like changes in the right proximal femur has a low incidence and early diagnosis is considered more difficult than for single fibrous dysplasia.
CONCLUSIONS: We report a cases of fibrous dysplasia associated with ABC-like changes in the right proximal femur treated with curettage and allograft along with hip compression screws.

暂无摘要。

UNASSIGNED: This study aimed to analyse the clinical effect of surgery for patients with fibrous dysplasia (FD) of the proximal femur with varus deformity, detect the muscle function around the hip joint.
UNASSIGNED: This is a retrospective study. A total of 20 patients who underwent operation for FD of the proximal femur with varus deformity at West China Hospital, from January 2018 to October 2022 were included in this study. The peak torque (PT) of muscle strength during abduction, adduction, flexion and extension of bilateral hip joints was measured by an isokinetic muscle test and training system associated with the comparison of bilateral hip joints, to evaluate the function of muscles around the hip joint after operation.
UNASSIGNED: The difference between the length of the affected limb and the healthy side was 1~2 cm in seven cases and <1 cm in 13 cases. The force line showed no abnormality in 15 affected limbs, which deviated from the center of the knee joint by 3-5 mm in five cases. The average PT during abduction of hip joints on the affected side of 20 patients was significantly lower than that on the healthy side, which was also reduced evidently during adduction and flexion of hip joints on the affected side compared with that on the healthy side.
UNASSIGNED: After effective recovery of the force line and length of the affected limb in patients with FD of the proximal femur with deformity, functional abnormalities of muscles are still present to a certain extent.

Fibrous dysplasia (FD) is a skeletal stem cell disease caused by mutations in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (GNAS) gene, which results in the abnormal accumulation of cyclic adenosine monophosphate (cAMP) and hyperactivation of downstream signaling pathways. Parathyroid hormone-related protein (PTHrP) is secreted by the osteoblast lineage and is involved in various physiological and pathological activities of bone. However, the association between the abnormal expression of PTHrP and FD, as well as its underlying mechanism, remains unclear. In this study, we discovered that FD patient-derived bone marrow stromal cells (FD BMSCs) expressed significantly higher levels of PTHrP during osteogenic differentiation and exhibited greater proliferation capacity but impaired osteogenic ability compared to normal control patient-derived BMSCs (NC BMSCs). Continuous exogenous PTHrP exposure on the NC BMSCs promoted the FD phenotype in both in vitro and in vivo experiments. Through the PTHrP/cAMP/PKA axis, PTHrP could partially influence the proliferation and osteogenesis capacity of FD BMSCs via the overactivation of the Wnt/β-Catenin signaling pathway. Furthermore, PTHrP not only directly modulated cAMP/PKA/CREB transduction but was also demonstrated as a transcriptional target of CREB. This study provides novel insight into the possible pathogenesis involved in the FD phenotype and enhances the understanding of its molecular signaling pathways, offering theoretical evidence for the feasibility of potential therapeutic targets for FD.

BACKGROUND: Surgical resection is the most effective curative management of benign rib tumors and carries an excellent prognosis. Due to complex anatomy and narrow field, higher rib resection is technically demanding and requires extensive dissection.
METHODS: We report a case of second rib tumor resection performed transthoracic under Da Vinci robot assistance. A 32-year-old male complained about increasing pain in the left anterior chest wall. After 3D reconstruction of CT, it showed a well-circumscribed fusiform lesion with a multi-component structure. Measured 17 × 6 × 4 cm and extended into the chest cavity to the depth below the pectoralis minor muscle. The patient underwent robotic-assisted trans-thoracic second rib resection. At four weeks of outpatient follow-up, the patient reported no pain and uncomplicated wound healing.
CONCLUSIONS: This minimally invasive approach offers optimal visualization and tissue manipulation while dramatically decreasing the possibility of collateral damage, hence ensuring fast function recovery. To the best of our knowledge, these kinds of procedures are rarely reported in detail.