Pachydermoperiostosis: a case report

Abstract

Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually over the years prior to disease stabilization. Two genes are reported to be associated with PHO HPGD and SLCO2A1. These genes are involved in prostaglandin E2 metabolism. We present a description of a 19-year-old patient with PHO. We found two mutations in the SLCO2A1 gene: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547GA) and p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330TG) through molecular genetic analysis. The mutation (p.Cys444Gly) has never been recorded in previous studies. This work expands our knowledge of the mutation spectrum of PHO, which will facilitate faster genetic diagnosis and interpretation of genetic information in prenatal diagnosis and genetic counseling.

Keywords

• pachydermoperiostosis
• primary hypertrophic osteoarthropathy
• touraine–solente–gole syndrome
• prostaglandin e2
• slco2a1
• hpgd