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Clouston Syndrome (Hidrotic ectodermal dysplasia 2)

  • Gap junction beta-6 gene mutation (encodes connexin 30)
  • Autosomal dominant inheritance

  • Abnormal connexin 30 interferes with communication between epithelial cells

  • Pressure site-localized palmoplantar keratoderma becoming generalized, hypotrichosis
  • “Grid-like” papules (eccrine acrosyringia)
  • “Wiry”, brittle, pale hair with potential for alopecia
  • Thick, dystrophic nails, with eventual nail plate loss

Pathology: 

  • Orthohyperkeratosis, 
    • Papules show ductal proliferation, fibrovascular stroma
    • Hairs show disorganized fibers, loss of hair shaft cuticle

  • Unknown