A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

Yukako Nakano; Yasuhisa Ohata; Makoto Fujiwara; Takuo Kubota; Yoko Miyoshi; Keiichi Ozono

doi:10.1016/j.bonr.2023.101673

A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

Bone Rep. 2023 Mar 16:18:101673. doi: 10.1016/j.bonr.2023.101673. eCollection 2023 Jun.

Authors

Yukako Nakano¹, Yasuhisa Ohata¹, Makoto Fujiwara¹, Takuo Kubota¹, Yoko Miyoshi^{1

2}, Keiichi Ozono¹

Affiliations

¹ Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan.
² Faculty of Health and Nutrition, Osaka Shoin Women's University, Higashi-Osaka 577-8550, Japan.

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 SLCO2A1. 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.

Keywords: Acromegaly; Hydrarthrosis; Pachydermoperiostosis; Prostaglandin transporter variant.

Publication types

Case Reports