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Ann N Y Acad Sci. 2010 Mar;1192:269-77. doi: 10.1111/j.1749-6632.2009.05244.x.

Heritable sclerosing bone disorders: presentation and new molecular mechanisms.

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1
University Paris 7, Federation of Rheumatology, Hospital Lariboisière, Paris, France. christine.devernejoul@lrb.aphp.fr

Abstract

Sclerosing bone disorders can be subdivided according to their clinical presentation, the primarily affected cell type, and the cellular pathways. Osteoclast-rich osteopetrosis and related disorders have been related in most cases to mutations in genes required for osteoclast function. More recently, osteoclast-poor forms of osteopetrosis have been described as being connected to factors that govern osteoclast differentiation. However, increased bone formation can also cause osteosclerosis. Camurati-Engelman disease and osteopoikilosis are both related transforming growth factor-beta signaling. Rare recessive or dominant sclerosing disorders, such as endosteal hyperostosis, sclerosteosis, van Buchem disease, high bone-mass syndrome, and osteopathia striata, are caused by mutations in genes involved in the Wnt pathway, which regulates osteoblast differentiation. Finally, a third entity, including Ghosal syndrome and pachydermoperiostosis, is related to mutations in genes of the eicosanoid pathway. Clinical aspects and the consequences for our understanding of bone biology are discussed.

[Indexed for MEDLINE]

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