KID Syndrome (Keratitis–Ichthyosis–Deafness Syndrome)

  • AD (few AR), GJB2 gene defect (encoding connexin 26)
  • Presents at or near birth with symmetric erythematous hyperkeratotic plaques on knees, elbows, and face; PPK with grainy or stippled appearance
  • Congenital sensorineural deafness, vascularizing keratitis with secondary blindness, photophobia, abnormalities of teeth/nails, ↑ infections, ↑ risk (rare) of SCC
   
 
KID Syndrome – Konnexin 26