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

TL;DR

A 20-year-old man with pachydermoperiostosis showed rare gynecomastia and low IGF-1 levels, highlighting the difficulty in diagnosing this rare genetic condition.

Contribution

This case report presents an uncommon presentation of pachydermoperiostosis with gynecomastia and low IGF-1 levels.

Findings

The patient exhibited gynecomastia, a rare feature in pachydermoperiostosis.

Low IGF-1 levels were observed without evidence of acromegaly or other secondary causes.

Symptomatic treatment with NSAIDs and lifestyle changes provided partial relief.

Abstract

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.

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