Hyperostosis corticalis generalisata

Definition:

Hyperostosis corticalis generalisata, also known as Van Buchem disease (VBCH), is an autosomal recessive disease. This disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. VBCH is due to a homozygous deletion of a 52-kb regulatory element 35 kb downstream of the SOST gene, which leads to impaired production of sclerostin. Sclerostin, the gene product of SOST, is an inhibitor of the canonical Wnt signaling pathway. VBCH phenotype can be caused by a mutation in the LRP5 gene.

References:

[1]. Antoon H van Lierop, et al. Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. J Bone Miner Res. 2013 Apr;28(4):848-54. [Content Brief]

[2]. Igor Fijalkowski, et al. A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone. J Bone Miner Res. 2016 Apr;31(4):874-81. [Content Brief]

[3]. Liesbeth Van Wesenbeeck, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. [Content Brief]

[4]. M E van Egmond, et al. A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review. Eur J Paediatr Neurol. 2012 Nov;16(6):740-3. [Content Brief]

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