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Symptomatic pachydermodactyly: A case report.

Ayaka Ito1, Hirotaka Tsuno1, Yusuke Yano1

  • 1Department of Rheumatology, National Hospital Organization Sagamihara National Hospital, Kanagawa, Japan.

Modern Rheumatology Case Reports
|October 29, 2024
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Summary

Pachydermodactyly (PDD) can present with symptoms like morning stiffness, mimicking other conditions. This case highlights the need for clear diagnostic criteria to avoid misdiagnosis and unnecessary treatments for PDD.

Keywords:
Pachydermodactylydifferential diagnosisdigital fibromatosisjuvenile idiopathic arthritisproximal interphalangeal joint

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Area of Science:

  • Dermatology
  • Rheumatology
  • Pediatrics

Background:

  • Pachydermodactyly (PDD) is an uncommon fibromatosis variant causing digital swelling, typically benign and asymptomatic.
  • Lack of established diagnostic criteria leads to misdiagnoses, often resulting in unnecessary medication for PDD.
  • Symptomatic PDD requires differentiation from conditions like juvenile idiopathic arthritis (JIA).

Purpose of the Study:

  • To present a case of symptomatic pachydermodactyly (PDD) in a young male.
  • To discuss the diagnostic challenges in differentiating PDD from juvenile idiopathic arthritis (JIA).
  • To contribute to establishing definitive diagnostic criteria for PDD.

Main Methods:

  • Case report of a 14-year-old Japanese male with symptomatic PDD.
  • Clinical evaluation including assessment for morning stiffness and inflammatory markers.
  • Literature review comparing symptomatic and asymptomatic PDD cases.

Main Results:

  • The patient presented with morning stiffness, initially suggestive of rheumatoid factor-negative polyarticular JIA.
  • Absence of inflammatory findings and uveitis ruled out JIA.
  • Morning stiffness resolved spontaneously; surgical intervention was pursued for aesthetic concerns regarding persistent swelling.

Conclusions:

  • Symptomatic PDD poses diagnostic challenges, particularly in differentiating it from JIA.
  • Asymptomatic status may not be a reliable criterion for diagnosing PDD.
  • Further research is needed to establish clear diagnostic criteria for PDD to prevent misdiagnosis and overtreatment.