Primary hypertrophic osteoarthropathy with anemia as assessed by 18F-FDG PET/CT.

Abstract

F-FDG) positron emission tomography/computed tomography (PET/CT) imaging revealed a constellation of findings that can be grouped into three categories: (1) skeletal: cortical thickening and periosteal reaction in the long bones of the lower limbs, along with extensively increased bone marrow density throughout the skeleton; (2) soft tissue: diffuse thickening of the cranial and facial skin, and multiple para-spinal soft tissue foci; and (3) systemic: cardiac findings suggestive of anemia-related adaptation. Genetic analysis confirmed the diagnosis by identifying heterozygous mutations in the SLCO2A1 gene (c.290G>A [p.R97H] and c.1295+1G>A), establishing PHO complicated by anemia.