Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene

Abstract

We report on a rare case of pachydermoperiostosis (PDP) in a 25-year-old male who was admitted to our hospital because of enlargement of fingers and toes. Through examination, we found some typical features on the patient including finger clubbing, periostosis, pachydermia, and cutis verticis gyrata (CVG). But laboratory tests were almost within normal ranges, which ruled out rheumatic arthritis, osteopulmonary arthropathy, thyroid acropathy, and acromegaly. Then, we diagnosed this case as PDP, which was confirmed by gene sequencing. The pathogenesis is concerned with abnormal rise of the level of PGE2 that results from the solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene defect. Meanwhile, we found a novel missense mutation c.101T > C of the SLCO2A1 gene in the patient with PDP.