A Case Report of Hereditary Hyperphosphatasia

Abstract

Hereditary hyperphosphatasia is a rare familial disease characterised by skeletal abnormalities, that is, cortical thickening and bowing of long bones and thickening of the skull bone, and high serum level of alkaline phosphatase. The disease usually appears in childhood. Female, 44, had onset of leg deformities at age 12. Deformity of facial bone had progressed during third decade. Hearing was reduced at age 40. Roentgenologically, the bone of the cranial vault was thickened and sclerotic. Cortical thickening and lateral bowing of the long bone was characteristic. The alkaline phosphatase level was high.