juvenile Paget's disease; hyperostosis corticalis deformans juvenilis; hereditary hyperphosphatasia; chronic congenital idiopathic hyperphosphatasia
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Epidemiology
- rare
- approximately 40 cases of JPD have been reported worldwide
Pathology
- osteopathy
- characterized by rapidly remodeling woven bone, osteopenia, debilitating fractures, & deformities due to a markedly accelerated rate of bone remodeling throughout the skeleton
Genetics
- associated with defects in TNFRSF11B
Clinical manifestations
- presents in infancy or early childhood
Management
- bisphosphonates to inhibit osteoclast activity
- fatal unless treated