Presentation
Longstanding history of progressive enlargement of the extremities and coarse facial features.
Patient Data
Skeletal survey showed diffuse bilateral periosteal new bone formation and symmetrical cortical thickening notable along the lower and upper extremity long bones, clubbing of the fingers can be appreciated as well. The overall findings are consistent with pachydermoperiostosis.
Case Discussion
Pachydermoperiostosis is also known as primary hypertrophic osteoarthropathy and is characterized by symmetrical periosteal bone formation in the tibia, fibula, radius and ulna. Clinically it presents with thickening of the skin and coarsening of facial features.
This patient was admitted for further investigation and work-up to rule out a secondary form of hypertrophic osteoarthropathy and all tests were unremarkable. The patient's brother has been diagnosed with the same disease suggesting a familial form and further genetic testing has been requested.
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