Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1.
Sclerosteosis is a very rare disease, with only around 100 cases reported. There is an equal sex distribution 2.
As with Van Buchem disease, a genetic disorder of the osteophyte leads to disrupted production of an anti-anabolic protein called sclerostin 2. This results in poor bony remodelling and hyperostosis.
Generalised thickening and sclerosis of both skull tables, the mandible and the long bones. Syndactyly and increased height are seen in sclerosteosis, which helps to distinguish it from Van Buchem disease 2.
As with Van Buchem disease, the differential includes other sclerosing bone dysplasias:
- 1. Balemans, W et al. Localization of the gene for sclerosteosis to the van Buchem Disease-Gene Region on Chromosome 17q12-q21. Americal Journal of Human Genetics, 1999;6(64): 1999. http://www.cell.com/ajhg/abstract/S0002-9297(07)63668-4
- 2. Balemans, Van Hull. Human genetics of SOST. Review Article. J Musculoskelet Neuronal Interact 2006; 6(4):355-356 www.ismni.org/jmni/pdf/16/08VANHUL.pdf