A 35-year old female presented to the emergency-room department with severe pain in the left hip and impaired walking. The patient had previous history of two traumatic left femoral fractures at the ages of 8 and 9, which were surgically treated. There was no other relevant medical or surgical history.
Conventional radiography (CR) of the pelvis (Fig.1) revealed a heterogeneous, mixed lytic and sclerotic, expansile lesion involving the neck and proximal diaphysis of the left femur. Similar lesions were found in the left acetabulum and ischiopubic ramus. A shepherd’s crook deformity with bowing and varus angulation of the proximal femur was also apparent.
Computed Tomography (CT) of the hips (Fig.2) depicted several well defined, slightly expansile lesions with a ground-glass matrix in both femurs and iliac bones.
Magnetic Resonance Imaging (MRI) of the hips (Figs.3,4) confirmed the presence of multiple centromedullary, expansile and well-defined lesions.
Bone scintigraphy (Fig.5) revealed multifocal tracer uptake in the appendicular skeleton and skull.
CR (Fig.6) and CT (Fig.7) of the skull revealed an expansile, mixed ground-glass/ sclerotic lesion of the occipital bone and predominantly sclerotic involvement of the left sphenoid bone. CR of the forearms (Fig.8) and legs (Fig.9) also depicted classic ground-glass expansile lesions.
Background
Fibrous Dysplasia (FD) is a genetic skeletal disorder caused by a sporadic mutation in the a-subunit of the Gs-stimulatory-protein, leading to replacement of normal bone and marrow by poorly organized fibro-osseous tissue.[1] It accounts for approximately 7% of all benign bone tumors.[2] The disease may be localized to a single bone – monostotic FD – or involve multiple bones – polyostotic FD. McCune-Albright and Mazabraud syndromes are two rare forms of disease, respectively associated with endocrine disorders and intramuscular myxomas.[1]
Clinical Perspective
The majority of FD cases are diagnosed in the first three decades of life and gender distribution is uniform.[2]
Monostotic FD is commonly asymptomatic and diagnosed incidentally on radiographs.
Polyostotic FD is more frequently symptomatic and can be associated with pain, swelling, disability and pathologic fractures.[3]
Malignant transformation is uncommon, occurring in less than 5% of cases.[3]
Imaging Perspective
Polyostotic FD most commonly affects the skull, mandible, pelvic bones and femur.[1] Classical lesions are intramedullary, expansile, well-defined with a narrow transition zone and a ground-glass matrix appearance. However, they can also appear as completely radiolucent or densely sclerotic lesions.[4] Cortical thinning or endosteal scalloping may be seen, but a smooth outer cortical contour is always preserved. FD lesions typically do not involve the adjacent soft tissues and periosteal reaction is uncommon unless there is an associated fracture.[1] In polyostotic FD severe skeletal deformities can be seen, the most characteristic being the shepherd’s crook deformity, in which there is bowing and varus angulation of the proximal femur.[4]
CT can define the extent of the disease and assess compression of adjacent structures, particularly in complex anatomical locations, such as the craniofacial bones.
MRI findings are variable, with intermediate/low signal on T1-weighted images, intermediate/high signal on T2-weighted images and heterogeneous enhancement.[5] Therefore, MRI should be reserved for complex cases, such as suspected pathological fractures or malignant transformation.[1]
Bone scans are essential to evaluate the overall extent of the disease and detect clinically silent lesions.[6]
Outcome
Treatment varies greatly depending on the degree of bone involvement and patient symptomatology. In polyostotic FD, since surgical treatment is often not an option, bisphosphonates are commonly used with positive effects on bone density and patient’s pain.[7]
Teaching Points
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Polyostotic Fibrous Dysplasia
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Based on the provided X-ray, CT, and MRI images, it can be observed that multiple areas of bone in the proximal and diaphyseal regions of the left femur, the pelvis (ilium, ischium, pubis, etc.), and the skull display varying degrees of “ground-glass” density changes and bone expansion. The margins are relatively well-defined. In some areas, the trabecular structure is blurred or shows fibrous changes. The proximal left femur shows a certain degree of deformity (in a “Shepherd’s crook” configuration), with cortical thinning but an overall smooth outer contour. No obvious large-scale abnormal soft tissue invasion is observed. Some previous fracture sites show surgical traces, but there is currently no clear sign of a new significant fracture line. In MRI, the lesions generally appear low or intermediate signal intensity on T1-weighted images, and intermediate to slightly high signal on T2-weighted images, with heterogeneous enhancement after contrast administration. Bone scan indicates multiple skeletal lesions, corresponding to radiographic fibrous changes in various locations.
Taking into account that the patient is a 35-year-old female who has had a history of bone fractures and confirmed fibrous lesions in the left femur since childhood (around 8−9 years old), and now demonstrates similar lesions in multiple skeletal sites, together with the characteristic imaging features (“ground-glass” pattern, expansive lesions, thinning of the cortex yet maintaining a generally smooth external contour), the most likely diagnosis is Polyostotic Fibrous Dysplasia. Further confirmation could involve clinical pathology or genetic testing, but currently there is no clear evidence of malignant transformation.
1. Treatment Strategy
2. Rehabilitation and Exercise Prescription (FITT-VP Principle)
Because excessive movement or agitation may increase the risk of pathological fractures, protective measures should be enhanced during any weight-bearing or resistance training. For patients with significant bone pain or biomechanical abnormalities in the joints, physical therapy strategies (cold/heat therapy, ultrasound therapy, etc.) may be used first to relieve discomfort before starting an exercise rehabilitation program.
Disclaimer: This report is a reference analysis for healthcare professionals and does not replace offline consultation or professional medical advice. Please seek immediate medical attention if you have any concerns or if symptoms worsen.
Polyostotic Fibrous Dysplasia