A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment

Am J Med Genet A. 2018 May;176(5):1253-1257. doi: 10.1002/ajmg.a.38677.

Abstract

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. At the admission he also showed digital clubbing of both hands and feet and palmoplantar hyperhidrosis. We hypothesized PDP and molecular analysis confirmed diagnosis showing a novel mutation in a homozygous state in the SLCO2A1 gene coding for prostaglandin transporter. He started therapy with hydroxychloroquine with a great improvement in joint pain and skin conditions. This is the first reported case of PDP who was successfully treated with hydroxychloroquine, with effects not only on arthralgia but also, surprisingly, on skin conditions.

Keywords: SLCO2A1 gene; hydroxychloroquine; primary hypertrophic osteoarthropathy; prostaglandin transporter.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles
  • Amino Acid Substitution
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Exons
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Homozygote*
  • Humans
  • Hydroxychloroquine / therapeutic use
  • Male
  • Mutation*
  • Organic Anion Transporters / genetics*
  • Osteoarthropathy, Primary Hypertrophic / diagnosis*
  • Osteoarthropathy, Primary Hypertrophic / drug therapy
  • Osteoarthropathy, Primary Hypertrophic / genetics*
  • Phenotype*
  • Radiography
  • Skin / pathology
  • Treatment Outcome

Substances

  • Organic Anion Transporters
  • SLCO2A1 protein, human
  • Hydroxychloroquine