A complicated case of pachydermoperiostosis with spondyloarthritides: a case report

Abstract

IntroductionPachydermoperiostosis is a rare, hereditary disease commonly presenting with digital clubbing, pachydermia and periosteal hypertrophy. Therapeutic options for pachydermoperiostosis are few because of the unknown pathogenesis. Here, we report the complicated case of a patient with pachydermoperiostosis combined with spondyloarthritides, who was refractory to steroids and tumor necrosis factor alpha antagonists. We treated this patient with zoledronic acid and performed an arthroscopic synovectomy, with a satisfactory outcome. To the best of our knowledge, this is the first report in English on the combination of zoledronic acid administration and synovectomy for the treatment of a patient with pachydermoperiostosis and spondyloarthritides.Case presentationAn 18-year-old Han Chinese man was diagnosed with pachydermoperiostosis in the presence of digital clubbing, periostitis and swollen limbs. Combined spondyloarthritides was also considered based on his lower back pain, lower limbs synovitis, bilateral sacroiliac sclerosis and a positive test for human leukocyte antigen B27, as well as immunoglobulin A nephropathy. He was refractory to steroids and tumor necrosis factor alpha antagonists, but treated with intravenous zoledronic acid and an arthroscopic synovectomy, with a satisfactory outcome.ConclusionThis is a rare, complicated case of pachydermoperiostosis with spondyloarthritides. Combination therapy of zoledronic acid administration with synovectomy is a novel, convenient and effective option for patients with pachydermoperiostosis with remarkable synovitis.

Successful treatment of pachydermoperiostosis patients with etoricoxib, aescin, and arthroscopic synovectomy

“…Arthroscopic synovectomy reduced joint swelling in this patient, but had no long-term therapeutic benefits. Although previous studies showed that synovectomy can reduce pachydermoperiostosis-associated arthralgia, [ 6 , 14 ] these studies all used synovectomy combined with medication and did not evaluate the curative effects of synovectomy alone. In this study, we observed that the knee and ankle swelling significantly decreased without postoperative medication, but no therapeutic effect on arthralgia was observed and the VAS scores did not improve, suggesting that PDP-related arthralgia is not due to synovitis.…”

Inflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases

“…Various genetic mutations have been described in patients affected with PDP. Though various pathogenic mechanisms and responsive cytokines and growth factors have been reported, none are confirmatory [7]. This uncertainty in pathogenic pathway and rarity of disease leads to a gray-zone in the therapeutic options.…”

Case series on remembering pachydermoperiostosis

“…However, also zoledronic acid can be effective in hypertrophic osteoarthropathies as pain reliefer. [10][11][12][13] The mechanism of action of bisphosphonates in hypertrophic osteoarthropathies remains unclear. But anti-resorptive and anti-inflammatory benefits are commonly accepted.…”