Treatment With Romosozumab In Progressive Pseudorheumatoid Dysplasia

Progressive pseudorheumatoid dysplasia (PPD) is a rare genetic disorder caused by pathogenic variants in Wnt1-inducible signaling pathway protein 3 gene. The primary skeletal issues include progressive joint stiffness, bone deformities, and bone fragility. Patients with PPD may have a higher risk of fractures resulting from secondary osteoporosis, joint instability, and skeletal weakness. Because PPD is a rare condition with limited specific treatment guidelines, antifracture therapies that are commonly used for osteoporosis and other bone dysplasias may be considered, although these have never been tested in PPD itself. In this context, romosozumab, a monoclonal antibody primarily used in the treatment of postmenopausal osteoporosis, could represent a valid option for initiating a sequential antifracture therapy in patients affected by PDD with very low bone mineral density aiming to potentially reduce fracture risk as described in the present case report.