Conditions / Genetic

erythrokeratodermia variabilis et progressiva 2

info ยท Genetic

An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-3

An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.

Signs and symptoms

  • Skin plaque
  • Erythema
  • Hypertrichosis
  • Palmoplantar keratoderma