Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report

Abstract

INTRODUCTION: Pachydermoperiostosis or primary hypertrophic osteoathropathy is a rare genetic disease with autosomal transmission. This disorder, which affects both bones and skin, is characterized by the association of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Here, we report a new observation of pachydermoperiostosis. CASE PRESENTATION: A 20-year-old North African Tunisian Caucasian man presented with hypertrophic osteoarthropathy. On a clinical examination, we found morphologic abnormalities of his face and extremities associated with skin changes. The laboratory findings were normal. A work-up disclosed no organic etiology. The final diagnosis consisted of pachydermoperiostosis syndrome. CONCLUSION: Pachydermoperiostosis is a rare entity that should be differentiated from secondary hypertrophic osteoarthropathy and chronic rheumatic diseases.