Posts Tagged ‘osteogenic sarcoma

Familial Paget’s disease accounts for about 20% of PDB cases, and it is often found to segregate in an autosomal dominant pat­tern. Mutations of p62/sequestosome 1 gene (SQSTM1/p62) ac­count for familial forms of PDB. It is well known that the presentation of familial PDB is most frequently poliostotic than in sporadic cases, and that levels […]

Case presentation A 65 years-old Italian woman came to our attention at the Me- dicina-Malattie Metaboliche dell’Osso Department. She came as an outpatient and the reason of the visit was persistent bone pain. Through family history of the patient, it was possible to ascer­tain a familial form of Paget’s disease of bone (PDB), because the […]