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Primary pachydermoperiostosis: a case report.

D M Thappa1, G Sethuraman, G R Kumar

  • 1Department of Dermatology and STD, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

The Journal of Dermatology
|March 18, 2000
PubMed
Summary
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Pachydermoperiostosis (PDP) is a rare skin disorder. This case study details a male patient with the complete form of primary PDP, characterized by skin thickening and bone abnormalities.

Area of Science:

  • Genetics and Dermatology
  • Rare Diseases
  • Skeletal Dysplasias

Background:

  • Pachydermoperiostosis (PDP) is a rare genodermatosis.
  • It presents in primary and secondary forms, distinguished by family history and associated conditions.
  • Primary PDP is often congenital and familial, while secondary PDP can be acquired and linked to other diseases.

Observation:

  • A 38-year-old Indian male presented with a 15-year history of progressive facial and scalp skin thickening.
  • He also exhibited digital clubbing, broadening of digits, and widening of wrists and ankles.
  • The patient had a consanguineous marriage but no family history of a similar disorder.

Findings:

  • The patient displayed the complete form of primary Pachydermoperiostosis.

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  • Clinical findings included cutis verticis gyrata, coarse facial features, digital clubbing, and significant periostosis with cortical thickening in extremities.
  • Radiographic evidence confirmed bone abnormalities consistent with PDP.

    • Implications:

    • This case highlights the clinical presentation of primary Pachydermoperiostosis in an adult male.
    • Understanding the distinct features of primary versus secondary PDP is crucial for accurate diagnosis and management.
    • Further research into the genetic basis and long-term prognosis of complete primary PDP is warranted.