What causes Pagets Disease of Bone?
The cause of PDB is unknown and may have genetic and environmental influences. Mutations in the SQSTM1 gene, which encodes a protein that plays a role in osteoclast function, are seen in 40% to 50% of familial cases of PDB. Paramyxovirus infection has been proposed as a potential trigger for PDB as pagetic osteoclasts have been found to contain intranuclear structures resembling paramyxovirus nucleocapsids, though no virus has been cultured from pagetic osteoclasts. The incidence of PDB is decreasing worldwide, and this may reflect changes in environmental contributions to PDB.