Naxos disease (plakoglobin in desmossome)

  • AR
  • Defect in plakoglobin protein
    • Component of desmosomes, the primary keratinocyte intercellular junction, and adherens juntion
  • Diffuse non-transgradiens PPK
  • Wooly hair
  • Right sided arrhythmogenic cardiomyopathy
    • Risk of sudden death early in life starting in puberty