Naxos Disease

  • Plakoglobin gene mutations
    • Naxos disease
    • Alopecia with focal palmoplantar keratoderma and cardiomyopathy
    • Acantholytic epidermolysis bullosa simplex
    • Epidermolysis bullosa simplex skin fragility syndrome
      Autosomal recessive inheritance
  • Onset within first year
  • KN motif and ankyrin repeat domains 2 gene mutation: palmoplantar keratoderma and woolly hair with no cardiac issues

  • Altered structure of epidermal, hair follicle, and cardiac myocyte desmosomes / adherens junctions
    • Altered KN motif and ankyrin repeat domains 2 gene expression changes steroid receptor activation

  • Diffuse non-epidermolytic palmoplantar keratoderma (possible focal (striate / areata) involvement), woolly hair, right ventricular cardiomyopathy

  • All patients with woolly hair / alopecia and palmoplantar keratoderma must undergo cardiac assessment along with their family members

  • Automatic cardioverter-defibrillator, antiarrhythmics, heart transplantation