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Pachydermoperiostosis: Three case reports.

Kumar Bhaskaranand1, Rohit R Shetty, Anil K Bhat

  • 1Department of Orthopaedic Surgery, Kasturba Medical College and Hospital, Karnataka, India.

Journal of Orthopaedic Surgery (Hong Kong)
|December 7, 2002
PubMed
Summary
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Pachydermoperiostosis patients experienced joint pain, swelling, and distinctive facial features. A novel association with spondylolisthesis was observed in one case.

Area of Science:

  • Rheumatology
  • Genetics
  • Dermatology

Background:

  • Pachydermoperiostosis is a rare genetic disorder.
  • It is characterized by skin thickening, digital clubbing, and bone changes.

Purpose of the Study:

  • To report three cases of pachydermoperiostosis.
  • To highlight clinical manifestations and discuss diagnostic considerations.
  • To present a previously undescribed association with spondylolisthesis.

Main Methods:

  • Case series reporting clinical findings.
  • Review of the natural history of pachydermoperiostosis.
  • Discussion of differential diagnoses.

Main Results:

  • All three patients presented with joint pain, swelling, and characteristic facial features.

Related Experiment Videos

  • Digital clubbing and extremity enlargement were noted.
  • One patient exhibited spondylolisthesis of L5-S1 vertebrae.

    • Conclusions:

    • Pachydermoperiostosis presents with a spectrum of symptoms.
    • Spondylolisthesis may be a newly recognized association.
    • Further research is needed to understand the full scope of this syndrome.