BACKGROUND: Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it\'s suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1).
METHODS: In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both.
CONCLUSIONS: Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.

Dermatofibrosarcoma protuberans (DFSP) is a low- to intermediate-grade dermal soft tissue malignant tumor (sarcoma) with a high local recurrence rate but low metastatic potential. DFSP is characterized by uniform spindle cell fascicles arranged classically in a storiform pattern and by CD34 immunoreactivity. On gross examination, DFSP usually manifests as a white or yellow soft tissue mass with a smooth outer surface and poor circumscription. In this study, we report a case of DFSP with fibrosarcomatous transformation, a rare but well-known phenomenon encountered in DFSP that is correlated with an increased risk of adverse outcomes in patients with DFSP. A 45-year-old male presented with a progressively enlarging lump on his left shoulder, initially suspected of being a lipoma but diagnosed as a fibrosarcomatous transformation of DFSP. Surgical resection was performed, with the subsequent identification of metastatic sarcoma in pulmonary nodules. Robotic-assisted thoracoscopy excised the nodules, confirming metastatic sarcoma with aggressive behavior. Despite negative adjuvant treatment plans, the patient remains under surveillance with imaging, showing no recurrence in recent scans. Continued follow-up with medical and surgical oncology is planned. DFSP is a rare soft tissue sarcoma characterized by indolent growth and low metastatic potential, except in fibrosarcomatous transformation cases. Molecularly, DFSP is defined by a COL1A1-PDGFB fusion transcript that is targetable with imatinib therapy. Treatment involves wide surgical resection, with adjuvant radiation therapy in select cases. Radiation therapy may be employed in cases with close or positive margins, while conventional chemotherapy has limited utility. Multidisciplinary collaboration is crucial for optimal management. Overall, this case underscores the challenges in diagnosing and managing aggressive sarcomas like fibrosarcomatous DFSP, emphasizing the importance of vigilant surveillance and multidisciplinary collaboration in optimizing patient outcomes. Further research is needed to understand the mechanisms underlying fibrosarcomatous transformation and to explore novel therapeutic avenues for this challenging malignancy.

UNASSIGNED: Non-ossifying fibroma (NOF) is a common benign fibrogenic bone lesion commonly found in the metaphysis of long bones. While small NOFs are typically asymptomatic and left untreated, large NOFs are often associated with pathologic fractures that can be treated conservatively or operatively. To our knowledge, the NOF presented in this case report is one of the largest reported in the literature.
UNASSIGNED: We present a case of a 12-year-old Hispanic female who presented to our institution after falling off a horse and landing on her right leg and wrist. Radiographs revealed a right distal femur fracture through an unusually large lytic bone lesion. The patient was treated with curettage, grafting, open reduction, and internal fixation, given the unstable and pathological nature of the fracture.
UNASSIGNED: This case substantiates the literature that large fractures through a NOF can be appropriately managed operatively. However, orthopedic surgeons should be aware of the risks of surgery, including infection, when considering operative management of patients who present with large unstable pathologic fractures through a NOF.

Non-ossifying fibroma (NOF) of jaw bones are rare. While NOF is the most common benign bone tumor of long bones with pathognomonic radiological features and bear a tendency for self-regression, gnathic NOF appears to be comparatively larger in size and behave more aggressively. A 16 years old female patient reported with painless swelling of the right side of the face of 4 months duration. Radiographic analysis showed a unilocular radiolucent lesion of right angle of the mandible with ill-defined margins, cortical perforation and thinning of inferior border. The lesion was provisionally diagnosed as odontogenic keratocyst/unicystic ameloblastoma and incisional biopsy was performed. The histopathological features and immunohistochemical characteristics favored a diagnosis of NOF. The lesion was excised and reconstructed. The excised specimen confirmed the diagnosis. There are no signs of recurrence at 18 months follow-up. NOF should be considered in the differential diagnosis of uni-/multilocular radiolucencies of jaws particularly the posterior mandible.

UNASSIGNED: Non-ossifying fibroma (NOF) is one of the most commonly seen benign bone tumours. Although renowned for their benign behaviour and tendency for spontaneous healing, these tumours can occasionally exhibit an aggressive course. Few published papers have focused on the treatment options of symptomatic NOFs.The aim of this case report is to discuss the clinical presentation of a painful and unusually aggressive multiple NOF of the distal tibia in a female adolescent patient.
UNASSIGNED: The case of a 17-year-old female patient who was complaining of a painful swollen right lower leg for the past few months. The symptoms became gradually worse, preventing her from sporting activities and becoming more and more debilitating. The patient was diagnosed with a particularly aggressive multiple non-ossifying fibroma of the distal tibia and fibula. She was treated with lesion curettage, bone grafting and external fixation with good clinical and radiological outcomes.
UNASSIGNED: Non-ossifying fibroma is a benign lesion that only requires observation in most of the cases. However, symptomatic lesions with aggressive behaviour or complicated with pathologic fracture may warrant surgical intervention.

Osseous lesions are rare; however, their incidence is increased in childhood and adolescence. The spectrum of osseous processes in this age group is limited, with benign lesions being much more prevalent than malignant tumors. For the differential diagnosis, it is essential to have in-depth knowledge of the more frequent bone diseases in children and adolescents. The current review presents these diseases based on the morphologic approach of the WHO classification, including giant cell-rich and cystic lesions, chondrogenic and bone-forming lesions [7]. Small round cell sarcomas which are now summarized in a separate chapter of the WHO classification have been described previously [12, 20].
UNASSIGNED: Ossäre Läsionen sind insgesamt selten, weisen im Kindes- und Jugendalter jedoch eine höhere Inzidenz auf. Das Spektrum ossärer Prozesse in diesem Lebensalter ist insgesamt umschrieben, wobei gutartige Prozesse gegenüber malignen Tumoren überrepräsentiert sind. Für differentialdiagnostische Überlegungen ist es wesentlich, einen Überblick über die häufigsten Erkrankungen des Knochens im Kindes- und Jugendalter zu haben. Die vorliegende Übersichtsarbeit stellt diese Erkrankungen angelehnt an die morphologisch basierte Einteilung der WHO-Klassifikation unter Einbeziehung riesenzellreicher und zystischer Läsionen, chondrogener und knochenbildender Erkrankungen dar und orientiert sich in der Auswahl der Läsionen vordergründig an der WHO-Klassifikation pädiatrischer Tumoren [7]. Die klein-rundzelligen Sarkomen, die in der WHO-Klassifikation in einem gesonderten Kapitel zwischen Weichgewebe- und Knochentumoren gebündelt sind, wurden bereits an anderer Stelle ausführlich dargestellt [12, 20].

Non-ossifying fibromas usually occur in the metaphysis of the long bones in children, and are extremely rare in the mandible. Here, we present a case of non-ossifying fibromas which occurred in the mandible of a 4-year-old boy. The patient had no complaint of ache. Laboratory blood examination of serum calcium, phosphorus, and parathormone levels was normal. Computed tomography of the maxillofacial region showed a well-defined osteolytic lesion affecting the right mandible. Microscopically, the lesion showed whorled bundles of spindle-shaped fibroblasts, as well as foam cells, mingled with scant multinucleated giant cells, without any bone formation. It is necessary to distinguish non-ossifying fibromas from other giant cell-containing lesions because of the extremely infrequent occurrence of this lesion in the mandible. We reviewed the histologic features of 14 cases of non-ossifying fibromas involved in the jaw.

Sporadic giant cell granulomas (GCGs) of the jaws and cherubism-associated giant cell lesions share histopathological features and microscopic diagnosis alone can be challenging. Additionally, GCG can morphologically closely resemble other giant cell-rich lesions, including non-ossifying fibroma (NOF), aneurysmal bone cyst (ABC), giant cell tumour of bone (GCTB), and chondroblastoma. The epigenetic basis of these giant cell-rich tumours is unclear and DNA methylation profiling has been shown to be clinically useful for the diagnosis of other tumour types. Therefore, we aimed to assess the DNA methylation profile of central and peripheral sporadic GCG and cherubism to test whether DNA methylation patterns can help to distinguish them. Additionally, we compared the DNA methylation profile of these lesions with those of other giant cell-rich mimics to investigate if the microscopic similarities extend to the epigenetic level. DNA methylation analysis was performed for central (n = 10) and peripheral (n = 10) GCG, cherubism (n = 6), NOF (n = 10), ABC (n = 16), GCTB (n = 9), and chondroblastoma (n = 10) using the Infinium Human Methylation EPIC Chip. Central and peripheral sporadic GCG and cherubism share a related DNA methylation pattern, with those of peripheral GCG and cherubism appearing slightly distinct, while central GCG shows overlap with both of the former. NOF, ABC, GCTB, and chondroblastoma, on the other hand, have distinct methylation patterns. The global and enhancer-associated CpG DNA methylation values showed a similar distribution pattern among central and peripheral GCG and cherubism, with cherubism showing the lowest and peripheral GCG having the highest median values. By contrast, promoter regions showed a different methylation distribution pattern, with cherubism showing the highest median values. In conclusion, DNA methylation profiling is currently not capable of clearly distinguishing sporadic and cherubism-associated giant cell lesions. Conversely, it could discriminate sporadic GCG of the jaws from their giant cell-rich mimics (NOF, ABC, GCTB, and chondroblastoma).

UNASSIGNED: Sports injuries occur during sport athletic activities, or exercising. However, there are some lesions which are typically associated to sports, in such a demanding and physical sport like Muay Thai that no typical lesion has been detected yet. We performed a narrative review of the literature to highlight the typical lesions of this sport to analyze the differential diagnosis of those conditions.
UNASSIGNED: A 28-year-old female, Muay Thai athlete since 16 years, presented with a 6 months history of a persistent pain in the metaphyseal lateral part of the right tibia. Differentiation between stress injuries, malignant bone tumors, and tumor-like lesions after repetitive microtrauma following sport activities can be difficult. The diagnostic approach involved conventional X-ray, echotomography, computed tomography scan, and magnetic resonance imaging scan with controversial findings. The biopsy confirmed the final diagnosis of non-ossifying fibroma.
UNASSIGNED: The purpose of this case report is to exhibit the challenges in the diagnosis of a professional Muay Thai athlete with tibial pain and to discuss the clinical presentation of this type of patients with a limited population in the literature. Our case illustrates that even modern imaging techniques cannot always distinguish between tumor and tumor-like lesions caused by sports; meanwhile remembered us that we should never be too focused on a particular characteristic forgetting even rare pathologies as adamantinoma.

Non-ossifying fibroma (NOF) is not prevelant in the mandible. It appears mostly in the long tubular bones in children and adolescents. We are presenting a case of a four-year-old girl reported to the maxillofacial department with painless swelling over the lower right side of the jaw. On the orthopantomogram (OPG), a well-defined multilocular radiolucency with a sclerotic margin was present. On computed tomography (CT), an expansile lytic lesion with cortical thinning without a breach in cortical continuity was noted. By correlating clinical and radiological features, a diagnosis of odontogenic and/or osteogenic lesion was made. The patient was considered for an excisional biopsy with curettage. On histopathology, NOF was confirmed. On postoperative follow-up, there was no sign of recurrence, and bone regeneration was significant.