Home Endosteal hyperostosis: Van Buchem

Endosteal hyperostosis: Van Buchem

Types

Defining Characteristics

Progressive asymmetrical enlargement of mandible (w/o dental malocclusion like osteopet), pain w/ point pressure on longbones
Heavy bones!

Disease Development

Disruption of Wnt signaling system causes decreased inhibition of Wnt, resulting in the inhibition of APC/GSK3 complex. Now, B-catenin is active and able to promote transcription of genes involved in osteoblast differentiation,
causing osteosclerosis

Potential Causes

Deactivating mutation in
SOST (Wnt inhibitor)

Risk factors

Autosomal recessive inheritance

Lab/Imaging

Nl OC
Possible inc alk phosphatase