Mutilating PPK (Vohwinkel Syndrome)

  • AD
  • Defect in GJB2 (connexin 26) gene
  • Diffuse honey-comb PPK appears in infancy
  • Constriction bands in childhood → pseudoainhum
  • Star-fish keratoses on dorsal hands, feet, elbows, knees
  • Classic - with deafness
  • Loricrin mutation variant - ichthyosis
  • Treatment
    • Retinoids may prevent pseudoainhum