Papillon–Lefèvre and Haim–Munk Syndromes

  • Cathepsin gene mutation
  • Autosomal recessive inheritance

  • Abnormal cutaneous / immune cell serine protease activation

  • Diffuse, transgredient palmoplantar keratoderma, erythema, pseudoainhum, hyperkeratotic psoriasiform plaques, childhood periodontitis with tooth loss
  • Increased risk of pyogenic infection and hepatic abscess, acral melanoma, squamous cell carcinoma
  • Haim–Munk syndrome
    • Onychogryphosis, arachnodactyly, acro-osteolysis

  • Unknown

  • Oral retinoids decrease hyperkeratosis and risk of infection