Looking for new anabolic treatment from rare diseases of bone formation

J Endocrinol. 2021 Feb;248(2):R29-R40. doi: 10.1530/JOE-20-0285.


Bone remodelling is a complex mechanism regulated by osteoclasts and osteoblasts and perturbation of this process leads to the onset of diseases, which may be characterised by altered bone erosion or formation. In this review, we will describe some bone formation-related disorders as sclerosteosis, van Buchem disease, hypophosphatasia and Camurati-Engelmann disease. In the past decades, the research focused on these rare disorders offered the opportunity to understand important pathways regulating bone formation. Thus, the identification of the molecular defects behind the etiopathology of these diseases will open the way for new therapeutic approaches applicable also to the management of more common bone diseases including osteoporosis.

Keywords: bone diseases; bone formation; osteoblast.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Camurati-Engelmann Syndrome / etiology
  • Camurati-Engelmann Syndrome / metabolism*
  • Camurati-Engelmann Syndrome / therapy
  • Humans
  • Hyperostosis / etiology
  • Hyperostosis / metabolism*
  • Hypophosphatasia / genetics
  • Hypophosphatasia / metabolism*
  • Hypophosphatasia / therapy
  • Molecular Targeted Therapy
  • Osteoblasts / metabolism*
  • Syndactyly / etiology
  • Syndactyly / metabolism*

Supplementary concepts

  • Sclerosteosis