Chronic Congenital Hyperphosphatasia (Juvenile Paget’s Disease) - A Review

Abstract

Chronic Congenital Hyperphosphatasia (or «Juvenile Paget’s Disease”) is an exceptionally rare bone disease, which registers currently just over fifty cases in worldwide literature. It is an inherited skeletal disorder, with very early onset, extremely high bone turnover and bone mineralization disorders that affects the whole skeleton. This review examines the published case reports to date and focuses on the pathogenesis, clinical features, epidemiology, diagnosis and therapeutic approaches of the disease.