Home Endosteal hyperostosis: Van Buchem

Endosteal hyperostosis: Van Buchem


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


Possible inc alk phosphatase