Conditions / Genetic
erythrokeratodermia variabilis et progressiva 1
info · Genetic
An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.
Signs and symptoms
- Generalized hyperkeratosis
- Erythroderma
- Patchy palmoplantar hyperkeratosis
- Hypergranulosis
- Epidermal acanthosis