Fibrous dysplasia

Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with idiopathic hypercalciuria. The proband additionally exhibited severe skeletal deformities and hyperparathyroidism...

Teaching point: Benign hyperostosis of the rib is a benign entity consisting of a stress phenomenon that should not be confused with Paget, fibrous dysplasia, or osteoblastic metastasis.

A 64-year-old man was referred to our department after a small pancreatic cystic lesion was discovered on computed tomography performed to assess choledocholithiasis. Multiple standard imaging modalities, including endoscopic ultrasound (EUS), failed to reveal pancreatic masses, wall thickening, or mural nodules. Consequently, a benign pancreatic cystic lesion was suspected, and the patient underwent biannual imaging studies including rotating magnetic resonance imaging and EUS. Six years after the initial detection of the pancreatic cyst, wall thickening was observed, leading to a shortened observation period of once every 3 months...

BACKGROUND: The lack of effective understanding of the pain mechanism of McCune-Albright syndrome (MAS) has made the treatment of pain in this disease a difficult clinical challenge, and new therapeutic targets are urgently needed to address this dilemma. OBJECTIVE: This paper summarizes the novel mechanisms, targets, and treatments that may produce pain in MAS and fibrous dysplasia (polyfibrous dysplasia, or FD). METHODS: We conducted a systematic search in the PubMed database, Web of Science, China Knowledge Network (CNKI) with the following keywords: "McCune-Albright syndrome (MAS); polyfibrous dysplasia (FD); bone pain; bone remodeling; G protein coupled receptors; GDNF family receptors; purinergic receptors and glycogen synthase kinase", as well as other keywords were systematically searched...

BACKGROUND: This study aimed to identify risk factors for postoperative lesion regrowth and to assess functional outcomes in craniofacial fibrous dysplasia, using a three-dimensional computed tomographic volumetric analysis. METHODS: A retrospective analysis was conducted on 47 patients with craniofacial fibrous dysplasia who were treated from July 2005 to December 2020. Patients were treated with either conservative shaving or radical excision followed by reconstruction...

EWSR1::NFATC2 sarcoma, a rare round cell sarcoma constituting the majority of EWSR1::non-ETS sarcomas, has recently been defined in the latest WHO classification. To date, the cytological findings of EWSR1::NFATC2 sarcoma remain undocumented. We present the case of a 25-year-old man with a history of polyostotic fibrous dysplasia in the right leg, referred to our hospital with left thigh pain. Cytological findings included metachromasia, minimally pleomorphic round cells, and eosinophilic infiltration. There was no precursor fibrous dysplasia and the initial diagnosis was undifferentiated pleomorphic sarcoma...

Bone histomorphometry is a well-established approach to assessing skeletal pathology, providing a standard evaluation of the cellular components, architecture, mineralization, and growth of bone tissue. However, it depends in part on the subjective interpretation of cellular morphology by an expert, which introduces bias. In addition, diseases like osteogenesis imperfecta (OI) and fibrous dysplasia are accompanied by changes in the morphology and function of skeletal tissue and cells, hindering consistent evaluation of some morphometric parameters and interpretation of the results...

BACKGROUND: Fibrous dysplasia (FD) is a benign developmental disorder of the bone that causes normal skeletal tissue to be replaced by excess fibrous tissue and poorly differentiated osteoblasts. Intraosseous xanthomas are benign intraosseous tumor growths characterized microscopically by the presence of lipid-laden foamy histiocytes, often with cortical expansion or disruption. Although FD commonly occurs in craniofacial bones, primary intraosseous xanthomas of the skull or facial skeleton are extremely rare...

Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in patients with autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia (TIO), the most common form of acquired FGF23-related hypophosphatemic rickets/osteomalacia (FGF23rHR). After the identification of FGF23, many other inherited and acquired forms of FGF23rHR were reported. In this review article, the detailed features of each acquired FGF23rHR are discussed, including TIO, ectopic FGF23 syndrome with malignancy, fibrous dysplasia/McCune-Albright syndrome, Schimmelpenning- Feuerstein-Mims syndrome/cutaneous skeletal hypophosphatemia syndrome, intravenous iron preparation-induced FGF23rHR, alcohol consumption-induced FGF23rHR, and post-kidney transplantation hypophosphatemia...

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Objective: To investigate the radiologic, pathologic, and molecular features of simple bone cysts (SBC), and their differential diagnoses. Methods: Fourteen cases of SBC were collected at the Department of Pathology, the First Affiliated Hospital of Nanjing Medical University from 2017 to 2022, and fluorescence in situ hybridization (FISH) was performed for retrospective analysis. Results: There were 14 patients, including 7 females and 7 males, with age range of 7 to 45 (median 29) years. The most common complaint was pain, including 4 cases with pathological fracture and 5 with history of previous trauma...

Objective: To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS). Methods: Thirty cases of parosteal osteosarcoma (POS) and 14 cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at Beijing Jishuitan Hospital, Capital Medical University were analyzed for the presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of periosteal osteosarcoma, reparative changes after fracture, pleomorphic undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia with malignant transformation, one case each of leiomyosarcoma, sclerosing epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell tumor)...

Desmoplastic fibroma (DF) is a rare benign bone tumor adopting an aggressive behavior, representing a challenge for clinical and radiographic diagnosis. This case report focused on a 31-year-old man with a large mandibular lesion with severe displacements of the mandibular teeth. Only a combination of paraclinical findings allows a definitive diagnosis to be made. Cervicofacial MRI revealed a low T1 signal intensity with peripheral enhancement after Gadolinium, and T2 hyperintense signal, while PET scan showed a moderate metabolism...

INTRODUCTION: Fibrous dysplasia (FD) is a benign skeletal disorder characterized by the replacement of normal bone tissue with disorganized fibrous tissue. Fractures are a significant complication of FD, particularly in the proximal femur, where deformities such as Shepherd's crook deformity can increase the risk. CASE REPORT: We present a case study of a 44-year-old male with unilateral monostotic FD, Shepherd's crook deformity, and a pathological femoral shaft fracture...

Neurofibromatosis type 1 (NF1) is an autosomally dominant tumor suppressor syndrome and multisystem disease. Central giant-cell granulomas (CGCGs) can be seen in patients with NF1. A 21-year-old female was diagnosed with two CGCGs, one in the mandible and then one in the maxilla, in a 7-year period. Increased incidence of CGCGs in NF1 patients was thought to be caused by an underlying susceptibility to developing CGCG-like lesions in qualitatively abnormal bone, such as fibrous dysplasia. However, germline and somatic truncating second-hit mutations in the NF1 gene have been detected in NF1 patients with CGCGs, validating that they are NF1-associated lesions...

This review directs the focus on the imaging features of various fibro-osseous lesions and other bone lesions that can be of similar presentation. Broad diagnosis of "fibrous osseous lesion" may culminate in improper treatment and management. Radiographic discriminating factors between these entities are highlighted and summarized to improve the diagnostic process when encountering these lesions.

BACKGROUND: Indistinct and analogous histopathological features of various fibro-osseous lesions make establishing a definitive diagnosis a challenge. There is a need for additional molecular and histochemical tools to support and differentiate these lesions in order to establish a concrete diagnosis. MATERIALS AND METHODS: A retrospective analysis of biopsied lesions in formalin-fixed paraffin-embedded sections (10 cases each of fibrous dysplasia, ossifying fibroma, and cement-osseous dysplasia) retrieved from the archives was studied for immunoexpression of osteocalcin (quantitative analysis in osteocytes), collagen characterization using Azan, Picrosirus, and Toluidine blue stain for evaluating intensity and localization of collagen fibers, and morphometric analysis of vasculature (for evaluating mean vessel density as square microns)...

McCune-Albright syndrome is a rare chimeric disorder due to mutations in the postzygotic GNAS gene. It belongs to the group of guanine nucleotide-binding protein diseases, affecting a wide range of individuals. It is characterized by fibrous dysplasia, café-au-lait skin macules, and precocious puberty with other variable clinical manifestations. At present, there are difficulties in the molecular diagnosis of McCune-Albright syndrome, and there is a lack of effective clinical treatments to halt or reverse the course and regression of the disease...

Several cases of elastofibromatous lesion affecting the oral mucosa have been reported. Clinically, these lesions may appear as small exophytic lesions or less often as white lesions. Therefore, fibrous hyperplasia and leukoplakia are not uncommonly considered in clinical differential diagnosis. Microscopically, elastic and fibrous connective tissue deposition is seen. Rarely, elastofibromatous changes can be detected when assessing intraoral lesions, including cysts, salivary gland neoplasms, and epithelial dysplasia...

PURPOSE: 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. CASE PRESENTATION: 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...