Hyperostosis corticalis generalisata is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. Autosomal recessive hyperostosis corticalis generalisata is also known as Van Buchem disease (VBCH). 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. Hyperostosis corticalis generalisata can be caused by a mutation in the LRP5 gene.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB80 Certain specified disorders of bone density or structure
H01774 Hyperostosis corticalis generalisata
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H01774 Hyperostosis corticalis generalisata
van Egmond ME, Dikkers FG, Boot AM, van Lierop AH, Papapoulos SE, Brouwer OF
Title
A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review.
Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W
Title
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
