Hidrotic Ectodermal Dysplasia (Clouston Syndrome)

  • AD, GJB6 connexin 30 (also KID)
  • Nail dystrophy, hyperkeratosis of palms, soles and hair defects
  • Normal sweating
  • Congenital nails dystrophy - thickened or thinned, striated, discolored
  • Accentuation of ridging on digital tips, bulbous swelling of soft tissue surrounding nail and at finger pad
  • Tufted terminal phalanges
  • Variable degree of alopecia, sparse pale hair, progresses over time (adolescence)
  • Ocular: strabismus, conjunctivitis and premature cataracts
  • Treatment: tretinoin and minoxidil