A primary hypertrophic osteoarthropathy or pachydermoperiostosis

A young boy of 17 years presented with arthalgia and arthritis of multiple joints unresponsive to treatment, generalized clubbing and enlargement of distal part of the extremities for 5 years and hyperhidrosis for 3 years. On examination, thickening of the facial skin and seborrhoea were found associated with acne. The patient has a Marfanoid appearance with column like legs and spade like fingers. There was no evidence of cutis vertices gyrata. Mild anaemia was present and vital signs were within normal limits. Examination of the musculoskeletal system revealed pain and swelling of the knee, ankle, elbow, wrist and proximal & distal interphalangeal joints. The spine and gait were normal. Radiographs of the limbs revealed subperiosteal new bone formation. The patient was diagnosed as a case of the autosomal dominant disorder, Primary Hypertrophic Osteoarthropathy or Pachydermoperiostosis.