Polyostotic fibrous dysplasia: imaging findings of a controversial case

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Abstract

Fibrous dysplasia is a rare non-neoplastic tumor-like congenital bone disease that is most likely associated with GNAS gene mutations, with a broad spectrum of clinical presentations, ranging from isolated monostotic and polyostotic forms to other extra-skeletal associated manifestations as in McCune–Albright syndrome. It is responsible for bone’s weakening and increased fragility, making it prone to fractures.

A 65-year-old female patient was referred to our radiology department for cervical and dorsal pain, with a previous diagnosis of incidental cervical and dorsal bone lesions that are suspected for metastases. X-ray, computed tomography, and magnetic resonance imaging were performed with a precise diagnostic suspicion of fibrous dysplasia that is confirmed by bone biopsy.

Fibrous dysplasia principally affects the bone and is characterized by bone replacement itself by dysplastic fibrous tissue. According to the number of affected bones and their association to endocrine alterations, it is classified into three categories monostotic, polyostotic, and Albright’s disease. Differential diagnosis with multiple myeloma among others and the best treatment decision was made.

About the authors

Francesca De Michele

Department of Clinical and Experimental Medicine, Foggia University School of Medicine; Radiology Unit, Barletta University Campus UNIFG, “Dimiccoli” Hospital

Email: francesca.demichele82@gmail.com
ORCID iD: 0000-0002-6043-6362
Italy, Foggia; Foggia

Francesca A. Carpagnano

Department of Clinical and Experimental Medicine, Foggia University School of Medicine; Radiology Unit, Barletta University Campus UNIFG, “Dimiccoli” Hospital

Email: c.francesca1991@gmail.com
ORCID iD: 0000-0001-7681-2898
Italy, Foggia; Foggia

Maria T. Paparella

Department of Clinical and Experimental Medicine, Foggia University School of Medicine; Radiology Unit, Barletta University Campus UNIFG, “Dimiccoli” Hospital

Email: mt.paparella@gmail.com
ORCID iD: 0000-0003-2573-9509
Italy, Foggia; Foggia

Giuseppe Guglielmi

Department of Clinical and Experimental Medicine, Foggia University School of Medicine; Radiology Unit, Barletta University Campus UNIFG, “Dimiccoli” Hospital; Radiology Unit, Hospital “Casa Sollievo Della Sofferenza”, San Giovanni Rotondo

Author for correspondence.
Email: giuseppe.guglielmi@unifg.it
ORCID iD: 0000-0002-4325-8330

Medical Doctor, Full Professor of Radiology, Department of Clinical and Experimental Medicine.

Italy, Foggia; Foggia; Foggia

References

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2. Fig. 1. The cervical tract X-ray, in the context of a diffused uncovertebral arthrosis, shows the presence of some ill-defined lithic bony lesions at C5, C7, and D1 vertebrae (a) and the posterior arch of the fifth left rib (b); moreover, a 5.5 × 2.5 cm expansile lesion of the posterior first left rib is visible, with a swollen and blown cortical appearance (b).

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3. Fig. 2. Sagittal (a) and coronal (b) cervical CT showing extensive lytic bone lesions at C5, C7, and D1 vertebrae, involving the seventh cervical posterior laminae and spinous process (c). The posterior arch of the first left rib shows an expansile bone lesion, surrounded by a thin and blown cortical layer, with a ground-glass bone matrix appearance and no soft tissue component (better seen on the axial plane in the figure 2d). Axial plane of the thoracic CT scan showing the involvement of the fifth dorsal vertebra, together with the corresponding left rib (e).

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4. Fig. 3. Sagittal T1w sequence of the cervical tract shows heterogeneously low-signal bone lytic lesions involving C5, C7, D1, D4, and D5 vertebrae and the spinous processes of C5 and C6 metamers (3a); all these findings were also confirmed by the administration of Gadolinium contrast enhancement (3b).

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5. Fig. 4. 18F-FDG PET-CT scan showing an increased tracer uptake at the posterior arch of the first left rib (4a), the fifth dorsal vertebra, and the posterior arch of the corresponding left rib (4b).

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6. Fig. 5. The whole body SPECT-CT confirmed the involvement of the above-mentioned bone segments and no other particularly shows two areas of high pathological focal accumulation of the osteotropic tracer (99mTc-HDP) in the left paravertebral side (D1 and D5-fifth left rib).

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Copyright (c) 2022 Guglielmi G., De Michele F., Carpagnano F.A., Paparella M.T.

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