Sclerosing bone disorders

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):71-83. doi: 10.1016/j.berh.2007.12.011.

Abstract

Sclerosing bone disorders are a diagnostic challenge. However, hereditary sclerosing disorders often have characteristic radiological features that allow their diagnosis. Osteocondensation can result from decreased bone resorption; malignant recessive osteopetroses have been related to mutations in several genes necessary for osteoclast function and also, more recently, to osteoclast differentiation (RANK-L). Albers-Schonberg disease or autosomal-dominant osteopetrosis type II has the characteristic 'sandwich vertebrae' and 'bone within bone' radiological features. It has been related to mutation in chloride channel 7, which is necessary for osteoclast acidification. Osteocondensation can also be related to increased bone formation. Camurati-Engelman dysplasia is a disabilitating disorder with leg pain and weakness, and thickening of the diaphysis of long bones on x ray. It is due to activating mutations in the gene encoding TGF-beta, a growth factor that increases bone formation. Other less common recessive or dominant sclerosing disorders, such as endosteal hyperostosis, sclerostosis, van Buchen disease and high bone mass syndrome, are due to mutations in two genes (LRP5 and SOST) of the Wnt pathway that induce increased osteoblast activity. Recent elucidation of the molecular mechanism responsible for several hereditary diseases with osteocondensation has improved our comprehension of bone remodelling. It has allowed the discovery of new targets for the treatment of postmenopausal osteoporosis, some of which are already being investigated in clinical trials. Molecular mechanism for some hereditary osteocondensation remains to be discovered.

Publication types

  • Review

MeSH terms

  • Camurati-Engelmann Syndrome / diagnosis
  • Humans
  • Melorheostosis
  • Osteoarthropathy, Primary Hypertrophic / diagnosis
  • Osteoclasts
  • Osteopetrosis / diagnosis
  • Osteopetrosis / physiopathology
  • Osteosclerosis / diagnosis*
  • Osteosclerosis / genetics
  • Osteosclerosis / physiopathology
  • Osteosclerosis / therapy
  • Wnt Proteins / physiology

Substances

  • Wnt Proteins