Howel–Evans Syndrome

  • Rhomboid 5 homolog 2 gene mutation
  • Autosomal dominant inheritance

  • Altered intramembrane protease function leading to increased epidermal growth factor receptor activity
    • Epithelial hyperproliferation
    • Aberrant wound healing

  • Focal palmoplantar keratoderma at pressure sites (plantar more than palmar), keratosis pilaris, rough / xerotic skin, oral leukokeratosis around 5-15 years of age
  • Increased risk for esophageal carcinoma by 50 years of age

  • Unknown

  • Unknown