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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

When the condition was described by Sir James Paget over 100 years ago, he believed that the bone changes seen in patients with this condition were the result of an inflammatory process. Hence the designation osteitis deformans.

The causative agent has yet to be established (1). Both environmental and genetic factors are thought to play a role (1).

  • around one third of the patients have affected first degree relatives
    • such families frequently carry mutations in the gene Sequestosome 1 (SQSTM1)
    • patients with such mutations have more extensive disease with an early onset
  • infection with canine distemper or measles virus are thought to be important as well (1)

Reference:


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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