Pachydermoperiostosis with bilateral ptosis and its associated systemic comorbidities: a rare case report

Pan Afr Med J. 2023 Jun 20:45:88. doi: 10.11604/pamj.2023.45.88.38964. eCollection 2023.

Abstract

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.

Keywords: Jamaica; Pachydermia; case report; pachydermoperiostosis; ptosis.

Publication types

  • Case Reports

MeSH terms

  • Blepharoptosis* / etiology
  • Comorbidity
  • Eye
  • Face
  • Humans
  • Osteoarthropathy, Primary Hypertrophic* / diagnosis
  • Rare Diseases