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
Affiliations
Yukako Nakano
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
Yasuhisa Ohata
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Corresponding author.
Makoto Fujiwara
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
Takuo Kubota
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
Yoko Miyoshi
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan; Faculty of Health and Nutrition, Osaka Shoin Women's University, Higashi-Osaka 577-8550, Japan
Keiichi Ozono
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita 565-0871, Japan
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.
