Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy

Several hereditary syndromes manifest with a distinct thickening of the palmar skin referred to as keratoderma. However, historically, the genetic cause of the condition has not always been resolved. We report 2 sisters who presented with palmoplantar keratoderma, digital clubbing, and hyperhidrosis, who were subject to a clinical case report in 1972.1 At a revisit, 50 years after the initial case presentation, the family was molecularly diagnosed with a deleterious variant in the gene 15-hydroxyprostaglandin dehydrogenase (HPGD), found in both sisters (OMIM #259100).