Focal Palmoplantar Keraoderma without Associated Features
Punctate Palmoplantar Keratoderma with Associated Features Syndromic
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Vohwinkel Syndrome

  • Gap junction protein beta-2 gene mutation
    1. Bart–Pumphrey
    2. Keratitis– ichthyosis–deafness
  • Encodes connexin 26 expression found in:
    1. Palmoplantar epidermis 
    2. Sweat gland
    3. Cochlea
  • Autosomal dominant inheritance
  • Abnormal connexin 26 expression leads to altered epithelial differentiation and sensorineural capacities
  • Pitted, stippled, “honeycomb-like” diffuse palmoplantar keratoderma, “starfish” knuckle keratoses 
  • Pseudoainhum leads to digital autoamputation
  • Nonprogressive high-tone sensorineural hearing loss
  • Bart–Pumphrey syndrome
    • Knuckle pads, leukonychia
    • Honeycomb-like palmoplantar keratoderma
    • High-tone sensorineural hearing loss

Pathology: 

  • Orthohyperkeratosis, papillomatosis
  • Oral retinoids
  • Surgical correction of scar-like bands
  • Cochlear implantation for hearing loss