Palmoplantar keratoderma and digital clubbing in two sisters with hypertrophic osteoarthropathy

ABSTRACT

Several hereditary syndromes manifest with a distinct thickening of the palmar skin referred to as 36 keratoderma. Historically, however, the genetic cause of the condition was not always resolved. We 37 report two sisters who presented with palmoplantar keratoderma, digital clubbing, and 38 hyperhidrosis, who were subject to a clinical case report in 1972 [1]. At a revisit, 50 years after the 39 initial case presentation, the family was molecularly diagnosed with a deleterious variant in the gene 40 HPGD, found in both sisters (OMIM #259100). This case report illustrates the natural course of 41 hypertrophic osteoarthropathy over a 50-year period.Genomic DNA was extracted from EDTA blood.