Polyostotic Fibrous Dysplasia – A multimodality approach

Clinical Cases 25.03.2021
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 35 years, female
Authors: Ana Teresa Vilares1, Miguel Castro1, Miguel Correia da Silva1, Anabela Silva1, António J. Madureira1,2
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Details
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AI Report

Clinical History

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.

Imaging Findings

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.

Discussion

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

  • FD can present not only as of the classical homogeneous, ground-glass matrix lesion but also as lytic, sclerotic or heterogenous density lesions.
  • Polyostotic FD is more aggressive clinically and radiographically and can be associated with severe skeletal deformities.

Written informed patient consent for publication has been obtained.

Differential Diagnosis List

Polyostotic Fibrous Dysplasia
McCune Albright Syndrome
Mazabraud Syndrome
Paget’s Disease

Final Diagnosis

Polyostotic Fibrous Dysplasia

Figures

Pelvic radiograph (AP view)

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A heterogeneous, mixed lytic and sclerotic, expansile lesion involving the proximal the left femur is seen (white arrow). Sim

CT of the right (Fig. 2a) and left legs (Fig. 2b), right (Fig. 2c) and left hips (Fig. 2d)

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Multiple well defined, slightly expansile lesions with a ground glass matrix appearance involving the head, neck and the whol
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Multiple well defined, slightly expansile lesions with a ground glass matrix appearance involving the head, neck and the whol
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Multiple well defined, slightly expansile lesions with a ground glass matrix appearance involving the head, neck and the whol
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Multiple well defined, slightly expansile lesions with a ground glass matrix appearance involving the head, neck and the whol

MRI of the right (Fig. 3a) and left hips (Fig. 3b) - Coronal T1-weighted images

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Multiple hypointense lesions involving the whole left femur, the proximal diaphysis of the right femur and the acetabula are
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Multiple hypointense lesions involving the whole left femur, the proximal diaphysis of the right femur and the acetabula are

MRI of the hips - Axial T2-weighted (Fig. 4a) and axial proton density images of the right (Fig. 4b) and left hips (Fig. 4c)

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Various lesions which are slightly hypointense on T2WI (arrowheads) and predominantly hyperintense on PDWI (asterisks) are ap
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Various lesions which are slightly hypointense on T2WI (arrowheads) and predominantly hyperintense on PDWI (asterisks) are ap
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Various lesions which are slightly hypointense on T2WI (arrowheads) and predominantly hyperintense on PDWI (asterisks) are ap

Bone scintigraphy (99mTC TC-HDP) – Anterior (Fig. 5a) and Posterior (Fig. 5b) views

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Planar whole-body images acquired 3 hours after injection in anterior and posterior views revealed intense tracer uptake in t
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Planar whole-body images acquired 3 hours after injection in anterior and posterior views revealed intense tracer uptake in t

Radiograph of the skull (lateral view)

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An expansile lesion of the occipital bone with a mixed sclerotic/ ground-glass appearance is apparent (asterisks). There was

CT of the skull axial (Fig. 7a) and coronal view (Fig. 7b)

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CT revealed widening of the diploic space of the occipital bone caused by an expansile ground-glass matrix lesion (asterisks)
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CT revealed widening of the diploic space of the occipital bone caused by an expansile ground-glass matrix lesion (asterisks)

Radiograph of the right elbow (lateral view)

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Mild expansion of the proximal ulna with uniform ground-glass density is seen (arrows). The zone of transition of the lesion

Radiograph of the left leg – AP (Fig. 9a) and Lateral (Fig. 9b) views

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There is a well-defined, expansile lesion of the mid-diaphysis of the left fibula with a ground-glass appearance (arrow). The
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There is a well-defined, expansile lesion of the mid-diaphysis of the left fibula with a ground-glass appearance (arrow). The