Abstract
Juvenile Paget disease or familial hyperphosphatasia is a rare autosomal recessive disorder, which represents a distinct clinical condition, not simply a juvenile-onset form of Paget disease. Osteoprotegerin deficiency leads to marked osteoclast activation and greatly accelerated bone remodeling. We
Highlights
Juvenile Paget disease is distinct from the relatively common adult-onset disease known as Paget disease
Juvenile Paget disease, hereditary hyperphosphatasia or hyperostosis corticalis deformans juvenilis, is a rare autosomal recessive disease of bone, which presents in infancy or early childhood (OMIM #239000; NCBI; www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?idϭ239000)
Osteoprotegerin, a soluble glycoprotein, acts as a decoy receptor that blocks the activation by receptor activator for nuclear factor B ligand (RANKL) of osteoclasts
Summary
Juvenile Paget disease is distinct from the relatively common adult-onset disease known as Paget disease. Juvenile Paget disease, hereditary hyperphosphatasia or hyperostosis corticalis deformans juvenilis, is a rare autosomal recessive disease of bone, which presents in infancy or early childhood (OMIM #239000; NCBI; www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?idϭ239000). Accelerated remodeling of the skeleton results in bone deformities, pain secondary to fractures, osteopenia of the long bones, corticomedullary indistinctness, and coarsening of the trabecular bone.
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