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juvenile Paget's disease; hyperostosis corticalis deformans juvenilis; hereditary hyperphosphatasia; chronic congenital idiopathic hyperphosphatasia
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
General
Paget's disease of the bone; osteitis deformans
genetic disease of bone/skeletal system
Database Correlations
OMIM 239000
References
OMIM :accession 239000