Olmsted Syndrome

  • Mutilating PPK with periorificial plaques
  • AD; XLR forms
  • Mutations in TRPV3 gene → channel involved in EGFR signaling; MBTPS2
  • Infancy: periorificial hyperkeratotic red plaques; +/- erythema of head/neck
  • Development of diffuse, transgradient, progradient PPK that can be extremely severe, painful, disabling
  • SCC, melanoma reported
  • Treatment: emerging use of oral sirolimus and erlotinib