juvenile Paget disease

(redirected from familial osteoctasia-macrocranium syndrome)

juvenile Paget disease

An extremely rare (40 cases in the world literature) autosomal recessive osteopathy (OMIM:239000) that presents in infancy or early childhood and is characterised by rapid remodelling of woven bone, osteopenia, debilitating fractures and deformities, due to a marked acceleration of bone remodelling throughout the skeleton.

Management
Agents to block osteoclastic bone resorption, which can be fatal.

Molecular pathology
Caused by defects in TNFRSF11B, which encodes an osteoblast-secreted decoy receptor of the TNF receptor superfamily that functions as a negative regulator of bone resorption.
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