Pycnodysostosis: a distinctive brittle bone disease?

Authors

  • Muralidhara K. Department of Emergency Medicine, Narayana Health, Bengaluru 102, Karnataka, India
  • Gouramma Padanad Department of Oral Medicine and Radiology, BIDS, Bengaluru-29, Karnataka, India
  • T. S. Srinath Kumar Department of Emergency Medicine, Narayana Health, Bengaluru 102, Karnataka, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20164233

Keywords:

Cathepsin K, Lysosomal, Osteosclerosis, Pycnodysostosis

Abstract

Pycnodysostosis is a rare disorder that is inherited as an autosomal recessive trait usually diagnosed at an early age with an estimated incidence of 1.7 per 1 million births. It is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who suffered from the disease. Pycnodysostosis is a lysosomal storage disorder of the bone caused by a mutation in the gene that codes the enzyme Cathepsin K causing osteosclerosis. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very common.

References

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Published

2016-12-16

How to Cite

K., M., Padanad, G., & Kumar, T. S. S. (2016). Pycnodysostosis: a distinctive brittle bone disease?. International Journal of Research in Medical Sciences, 4(12), 5477–5480. https://doi.org/10.18203/2320-6012.ijrms20164233

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Section

Case Reports