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Pachydermodactyly: a systematic review.
Ricardo Vázquez Fernández1,2, José Ramón Maneiro Fernández3, Evelin Cecilia Cervantes Pérez3
1Department of Medicine, Medical School, Universidad de Santiago de Compostela, Santiago de Compostela, Spain. rivazfer@gmail.com.
Irish Journal of Medical Science
|October 2, 2020
Summary
Pachydermodactyly, a benign fibromatosis, is often misdiagnosed. Early diagnosis via physical exam and imaging can prevent unnecessary treatments for this condition, which is more common in adolescent males.
Area of Science:
- Dermatology
- Rheumatology
- Medical Genetics
Background:
- Pachydermodactyly is a rare, benign fibromatosis affecting the proximal interphalangeal joints.
- It is frequently misdiagnosed as juvenile idiopathic arthritis, leading to inappropriate treatments and patient anxiety.
Purpose of the Study:
- To comprehensively review the scientific literature on pachydermodactyly.
- To provide a detailed description of its clinical presentation, diagnosis, and management.
Main Methods:
- A systematic review and descriptive study were conducted.
- Literature search performed across major databases: PubMed, Embase, Cochrane Library, and Web of Science.
Main Results:
- Pachydermodactyly is four times more common in males, typically starting in adolescence, and often presents bilaterally.
- Microtrauma from digital manipulation and neuropsychiatric disorders are noted in nearly half of patients.
- Women may present later, unilaterally, with a family history; imaging shows soft tissue swelling without joint involvement.
Conclusions:
- Diagnosis is achievable through physical examination, lab results, and imaging, often without biopsy.
- Pachydermodactyly is asymptomatic and benign, but underdiagnosis is common due to limited awareness.
- Clinician awareness is crucial to prevent misdiagnosis and ensure appropriate patient care.
