Endocrine Abstracts

Introduction: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHOA) is a rare genetic condition characterised by digital clubbing, pachydermia, hyperhidrosis, cutis verticis gyrata and periostosis. The SLCO2A1 transporter and HPGD enzyme genes play an important role in prostaglandin metabolism, hence loss of function mutations in them causes PHOA. To date, according to the VarSome database 101 and 41 variants have been identified in the SLCO...

Background: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) is a rare genetic disease characterised by clinical signs and symptoms which may overlap with acromegaly (pachydermia, hyperhidrosis and enlargement of hands and feet). In the majority of cases, the disease is due to biallelic loss-of-function variants in either of two genes, SLCO2A1 and HPGD playing an important role in prostaglandin metabolism. Although PHO patients are often ref...