erythrokeratodermia variabilis et progressiva 3 (DOID:0080249)
Alliance: disease page
Alt IDs: OMIM:617525
Definition: An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.