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.

Craniofacial fibro-osseous lesions (CFOLs) are a diverse group of relatively rare entities whose etiology ranges from reactive to dysplastic with a potential for malignant transformation. It is distinguished by the replacement of bone with fibrous tissue, that subsequently develops different degrees of calcification. Fibrous dysplasia (FD) is a component of the fibro-osseous lesion spectrum. The clinical spectrum of FD is wide, ranging from minor monostotic lesions affecting a single bone to devastating polyostotic disease involving the entire skeleton. FD produces asymmetry, which impairs face aesthetics. FD leads to bone differentiation, disintegration, and disorganization. It depicts a cellular collagenous stroma lacking mitotic figures and pleomorphism. Blood capillaries are evenly distributed, as are elongated trabeculae of woven or lamellar bone with uneven curves (often referred to as the Chinese letters pattern). Three types of FD patterns can be identified by computed tomography (CT) imaging: a cystic pattern, a homogeneously dense pattern, and a ground-glass pattern. The cornerstone of treatment is surgery, although the method varies depending on the location, size, and symptoms of the lesion. As an alternative to surgery, the use of bisphosphonates to reduce osteoclastic activity is under consideration. In this case series, we present three cases of FD involving the maxilla and mandible. We aim to correlate the clinical presentation, histological features, and radiographic findings, to promote early diagnosis, treatment, and better prognosis of the patient.

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.

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. Bone biopsy with immunohistochemical analysis allowed for definitive diagnosis of DF after eliminating the main differential diagnosis (fibrous dysplasia, fibrosarcoma, desmoid tumor, and osteosarcoma). The patient was successfully treated by large mandibular resection and reconstruction with a free-fibular bone flap\".

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.

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.

Fibrous dysplasia is a benign, developmental bone disorder that causes fibrous replacement of normal skeletal tissue. This may lead to weakness, distortion, and tissue expansion. Fibrous dysplasia can occur anywhere in the body, including the craniofacial area. The clivus is a central skull bone formed by the bases of the sphenoid and occiput, respectively. The clivus is a rare, usually unrecognized, and seldom reported location for the development of fibrous dysplasia. Although fibrous dysplasia of the clivus (FDC) is usually discovered by incidental findings, it can sometimes present with clinical symptoms. In this case, we discuss a 30-year-old male who presents to the emergency room with headaches, altered mental status, and a prior presentation of location-related symptomatic epilepsy. Magnetic resonance imaging depicted a mass in the clivus, low in signal on T1 and mildly hypointense on T2 imaging. Follow-up computed tomography (CT) imaging, as recommended, revealed the classic presentation of FDC. In this paper, we discuss the significance of this condition and the importance of thorough investigation to rule out differential diagnoses that may present with similar acute symptoms as this patient.

McCune-Albright syndrome is classically defined by the clinical triad of fibrous dysplasia (FD) of the bone, café-au-lait macules, and endocrinopathies. We report the case of a 15-year-old male with a diagnosed with McCune Albright syndrome. McCune-Albright syndrome remains a diagnostic challenge, and delayed diagnosis may have significant consequences. Routine musculoskeletal screening along with other endocrinopathies should be kept in mind. The rehabilitation programs that provides significant improvement in their quality of life. The treatment of McCune-Albright syndrome is directed toward the specific symptoms that are apparent in each individual.

Mazabraud\'s syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud\'s syndrome was further proven by histopathological evaluation and molecular studies of GNAS1 gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall.

Fibro-osseous lesions in the jaw bones include fibrous dysplasia, ossifying fibroma (OF), cemento-ossifying fibroma, florid osseous dysplasia, and focal osseous dysplasia. OF is the most common fibro-osseous tumor that presents as a slow-growing well-encapsulated benign neoplasm composed of varying amounts of bone or cement-like tissue in a fibrous stroma well-demarcated from the adjacent normal bone. OF is most common in the jaw bones, with a predilection for the mandible. OF usually occur as solitary lesions and rarely as multiple lesions in a patient. We present clinical and radiologic features, histopathology, and surgical management of a rare case with large synchronous OFs in the mandible and maxilla and a brief review of the literature.