Focal Palmoplantar Keraoderma without Associated Features
Punctate Palmoplantar Keratoderma with Associated Features Syndromic
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Cole Disease

  • Rare
  • Ectonucleotide pyrophosphatase / phosphodiesterase 1 gene mutations
  • Autosomal recessive inheritance
  • Altered hydrolysis of adenosine triphosphate to adenosine monophosphate
  • Uninhibited mineralization with potential for ectopic calcification
  • Punctate palmoplantar keratoderma, irregular hypopigmented macules of extremities appearing in childhood or at birth
  • Possible calcific tendinopathy and calcinosis cutis
  • Unknown