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

  • Unknown