Papillon-Lefèvre Syndrome

  • AR
  • Defect in CTSC gene (cathepsin C) → activator of serine proteases (inc in inflammatory cells)
    • (break down fillagrin)
    • Autossomal Recessive
    • Onset within 5 years of life
    • Increased susceptibility to infection
    • Because it is not able to break down the stratum corneum - there are Hyperkeratotic plaques on knees and elbows
    • Palmoplantar keratoderma with transgrediens
    • Hyperhydrosis
    • Sparse hair
    • Loss of teeth in most patients by early teens
    • Dural calcification at the tentorium and choroid attachments
    • “stinky frenchman with bad teeth and a hard head”
  • Diffuse, transgradiens, progradiens PPK
    • Psioriasiform plaques on elbows/knees
  • Malodor, pyogenic skin infections
  • Periodontitis, severe gingivitis, loss of teeth
  • Infections: cutaneous, systemic (hepatic abscesses)
  • Acral melanoma
  • Allelic condition: Haim-Munk Syndrome
      • Haim-Munk syndrome
    • Arachnodactyly, acro-osteolysis, onychogryphosis, atrophic nail changes, PPK, peridontitis