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