A patient with pachydermoperiostosis harboring <i>SLCO2A1</i> variants with a history of differentiating from acromegaly.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 36968251.
- Also identified by DOI 10.1016/j.bonr.2023.101673 and PMC identifier 10036882.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in <i>SLCO2A1</i>. Recent studies have reported various clinical manifestations, as well as skeletal and dermal features, in patients with PDP. Genetic testing provided not only PDP diagnosis and differentiation from acromegaly, but also information about possible complications and comorbidities throughout life.