Carvajal Syndrome (desmoplakin in desmossome)

  • ARb
  • Defect DPS gene leading to altered desmoplakin protein
    • Component of desmosomes
  • Striate PPK
  • Left-sided dilated cardiomyopathy
  • DDx: Wooly hair + PPK
    • Carvajal syndrome
    • Naxos syndrome
    • Somatic H-RAS mutations → wooly hair, PPK, and epidermal nevi; no cardiac issues