Trevor's disease and whole-body MRI

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare disease characterized by osteocartilaginous overgrowth involving single or multiple epiphyses on the medial or the lateral side of an affected limb. DEH usually becomes clinically evident in childhood. Imaging has a major role in the diagnosis of DEH. Typical location and radiographical features, together with a distinct distribution usually permit diagnosis. Magnetic resonance imaging (MRI) is often used as an additional imaging modality to evaluate the lesion. Whole-body MR imaging (WBMRI) currently has become a relatively fast imaging method having good sensitivity to detect lesions in the larger bones of the skeleton. In Trevor's disease, WBMRI can demonstrate (clinically and radiographically unsuspected) additional lesions throughout the affected limb without use of ionizing radiation, revealing the typical distribution pattern of DEH. We propose to add WBMRI to the routine MRI examination performed to evaluate the lesion itself. WBMRI may have a clear therapeutic advantage: if a distribution pattern typical of DEH is found, it constitutes a strong argument in favor of Trevor's disease which may avoid the need to perform biopsy.