Pachydermoperiostosis Presenting With Gynecomastia and Low Insulin-Like Growth Factor-1 Levels: A Diagnostic Challenge

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by digital clubbing, skin thickening, and periostosis. Due to its overlapping clinical features with secondary hypertrophic osteoarthropathy, it often poses a diagnostic challenge. We report a case of a 20-year-old male patient who presented with progressive digital clubbing, joint pain, and coarse facial features over four years. The patient also exhibited gynecomastia, an uncommon feature in PDP. Despite no history of underlying pulmonary, cardiac, or gastrointestinal disease, his symptoms persisted. Hormonal evaluation revealed low insulin-like growth factor-1 (IGF-1) levels with normal pituitary imaging, effectively excluding acromegaly. Genetic and radiographic studies were not performed due to logistical constraints. Diagnosis was established through clinical evaluation and exclusion of secondary causes. The patient was managed symptomatically with nonsteroidal anti-inflammatory drugs (NSAIDs) and lifestyle modifications, resulting in partial relief of joint pain and stiffness. This case highlights the importance of recognizing PDP in young patients presenting with clubbing and skin changes, especially in the absence of secondary causes. Early diagnosis and multidisciplinary management are essential to prevent unnecessary investigations and improve patient outcomes.