Keywords
Amazon
Primary hypertrophic osteoarthropathy
Touraine-Solente-Golè syndrome
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Abstract
Objective: To report a case of complete pachydermoperiostosis (PDP) in the Amazon, detailing clinical characteristics, functional/psychosocial impact, and diagnostic/therapeutic challenges. Case report: A 27-year-old male patient from the Eastern Amazon reported persistent knee and ankle pain and edema since age 16. After a long journey, he was diagnosed with complete PDP, manifested by skin thickening, cutis verticis gyrata, and digital clubbing. Radiographs confirmed extensive periostosis and first-degree parental consanguinity. Disease progression compromised his mobility and work capacity, with significant functional and psychosocial impact. Clinical management (oral/IV corticosteroids, NSAIDs, methotrexate) did not bring sustained improvement, and infliximab was unfeasible due to regional logistical barriers, highlighting therapeutic limitations. PDP, a rare genetic condition, is frequently underdiagnosed. Final consideration: This Amazonian case underscores diagnostic and therapeutic difficulties due to restricted access and the disease's rarity. It is hoped to broaden PDP recognition in challenging regions, reinforcing scientific attention and resources for early diagnosis and appropriate management of rare diseases in the country.
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