Pachydermoperiostosis, complete form : A case report of rare occurrence. (Preprint)

Abstract

Pachydermoperiostosis is a rare genetic disorder featuring a triad of pachydermia, periostosis and digital clubbing. It is either caused by the mutations in the HPGD (AR inheritance) or SLCO2A1 gene (AD inheritance), resulting in elevated prostaglandins E2 levels. It can be classified on the basis of presence or absence of underlying cardiac, pulmonary or hepatic disease as primary or secondary. We hereby report a case of primary pachydermoperiostosis, a 31 years old male with the complete triad and associated hypothyroidism.