Fibrodysplasia ossificans progressiva: a new spotlight on an old disease—a case report

Hamilton, Steven W.; Roxburgh, Campbell S.D.; Renshaw, P. R.

doi:10.1080/17453670710015391

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…The finding that all flare‐ups were accompanied by edema on MR‐imaging is in line with five case reports . In these case reports, often MRI was used to evaluate soft tissue swelling in, at that time, an undiagnosed child with FOP.…”

Section: Discussionsupporting

confidence: 76%

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Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva

et al. 2020

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Using [18F] Sodium Fuoride (NaF) Positron Emission Tomography (PET) it is not only possible to identify the ossifying potency of a flare‐up, but also to identify an asymptomatic chronic stage of fibrodysplasia ossificans progressiva (FOP). The purpose of this study was to investigate the diagnostic role of a more widely available imaging modality, Magnetic Resonance Imaging (MRI), which is of special interest for studies in pediatric FOP patients. MRI and [18F]NaF PET/CT images at time of inclusion and subsequent follow‐up CT scans of 4 patients were analyzed retrospectively. Presence, location, and intensity of edema identified by MRI were compared with activity on [18F]NaF PET. Occurrence or progression of heterotopic ossification (HO) was examined on the follow‐up CT images. Thirteen different lesions in various muscle groups were identified: five lesions with only edema, five lesions with both edema and increased [18F]NaF uptake, one lesion with only increased [18F]NaF uptake, and two lesions with neither edema nor uptake of [18F]NaF. Mild edema, found in three lesions, was present at asymptomatic sites, which did not show increased [18F] NaF uptake or progression of HO on consecutive CT images. Moderate edema was found in three symptomatic lesions, with increased [18F]NaF on PET and progression of HO on CT. Severe edema was identified in four lesions. Interestingly, two of these lesions did not develop HO during follow‐up; one of these two even gave obvious symptoms of a flare‐up. MRI can identify whether symptoms are the result of an acute flare‐up by the presence of moderate to severe edema. The occurrence of severe edema on MRI was not always related to an ossifying lesion. The additional diagnostic value of MRI requires further investigation, but MRI does not seem to fully replace the diagnostic characteristics of [18F]NaF PET/CT in FOP. © 2020 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

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Section: Discussionsupporting

confidence: 76%

“…A few FOP case reports have described hyperintense foci on T2‐weighted images during flare‐ups, but whether these hyperintense foci on MRI led to formation of HO was not investigated. Nevertheless, in R206H Acvr1 knock‐in mice, it was shown that sites of HO formation coincided with hyperintense T2 signals.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva

et al. 2020

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“…FOP was first described by Patin in 1692. 2 Most patients are sporadic cases, emerging as a result of a spontaneous mutation. The primary characteristic feature of FOP is heterotopic bone formation.…”

Section: Discussionmentioning

confidence: 99%

Intrathoracic Fibrodysplasia Ossificans Progressiva

Özkan¹,

Alp

Demırağ³

et al. 2012

Thorac cardiovasc Surg

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Fibrodysplasia ossificans progressiva is an extremely rare disease that is usually seen in the form of sporadic cases and seems to be localized outside of the thoracic cavity. Inflammation and trauma are accused in the etiology, and too many diagnostic mistakes are done. The disease, which may present genetic transmission and has not a definitive treatment, was seen as an intrathoracic mass for the first time. Intrathoracic mass was excised, and the cure was achieved in our patient, who was defined to be sporadic as a result of familial screening.

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Cartilage- And Bone-Forming Tumors and Tumor-Like Lesions

Fanburg‐Smith¹,

Murphey

2010

Modern Soft Tissue Pathology

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Fibrodysplasia ossificans progressiva: a new spotlight on an old disease—a case report

Cited by 3 publications

References 8 publications

Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva

Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva

Intrathoracic Fibrodysplasia Ossificans Progressiva

Cartilage- And Bone-Forming Tumors and Tumor-Like Lesions

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