Abstract
Sclerosing bone dysplasias are a group of rare, monogenic disorders characterized by increased bone density resulting from the disturbance in the fragile equilibrium between bone formation and resorption. Over the last decade, major contributions have been made toward better understanding of the pathogenesis of these conditions. These studies provided us with important insights into the bone biology and yielded the identification of numerous drug targets for the prevention and treatment of osteoporosis. Here, we review this heterogeneous group of disorders focusing on their utility in the development of novel osteoporosis therapies.
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Acknowledgments
Research relevant for this review was supported by a grant from the University of Antwerp (TOP-BOF) and 2 research grants (G.0065.10N and G.0197.12N) from the Fonds Wetenschappelijk Onderzoek-Vlaanderen (FWO) to W. Van Hul. I. Fijałkowski holds a pre-doctoral specialization scholarship from the “Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-Vlaanderen)”. E. Boudin holds a post-doctoral fellowship of the FWO (Fund for Scientific Research) Vlaanderen.
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I. Fijalkowski, E. Boudin, G. Mortier, and W. Van Hul declare that they have no conflicts of interest.
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All studies by the authors involving animal and/or human subjects were performed after approval by the appropriate institutional review boards. When required, written informed consent was obtained from all participants.
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Fijalkowski, I., Boudin, E., Mortier, G. et al. Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments. Curr Osteoporos Rep 12, 243–251 (2014). https://doi.org/10.1007/s11914-014-0220-5
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DOI: https://doi.org/10.1007/s11914-014-0220-5
Keywords
- Sclerosing bone dysplasia
- Osteopetrosis
- Pycnodysostosis
- High bone mass phenotype
- Sclerosteosis
- Van Buchem disease
- Craniodiaphyseal dysplasia
- Craniometaphyseal dysplasia
- Camurati-Engelmann disease
- Osteopoikilosis
- Raine syndrome
- Paget’s disease of bone
- Ostaoectasia with hyperphosphatasia,
- Familial expansile osteolysis
- Expansile skeletal hyperphosphatasia
- Osteoporosis
- Treatment