Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene.
Eur J Med Genet 2017 Aug 8;60(8):433-436. Epub 2017 Jun 8.
Department of Endocrinology, The First Central Hospital(BDCH), Baoding 071000, China. Electronic address:
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. Read More