A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
- Annalisa Alessandrella,
- Roberto Della Casa,
- Maria Alessio,
- Jorge Puente Prieto,
- Pietro Strisciuglio,
- Daniela Melis
Am J Med Genet A 2018 May;176(5):1253-1257
Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17-year-old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin face with seborrhea from about 4 years. Read More