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.
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Authors | Marie-Christine de Vernejoul, Uwe Kornak |
Journal | Annals of the New York Academy of Sciences
(Ann N Y Acad Sci)
Vol. 1192
Pg. 269-77
(Mar 2010)
ISSN: 1749-6632 [Electronic] United States |
PMID | 20392246
(Publication Type: Journal Article, Review)
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Topics |
- Animals
- Bone Resorption
(genetics, physiopathology)
- Genetic Diseases, Inborn
(diagnosis, genetics, physiopathology)
- Humans
- Models, Biological
- Mutation
(physiology)
- Osteoclasts
(metabolism, physiology)
- Osteogenesis
(physiology)
- Osteosclerosis
(diagnosis, genetics, physiopathology)
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