Version: 8.0.0
Date: Tue Jan 28 2025
erythrokeratodermia variabilis et progressiva 3
DOID:0080249
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

erythrokeratodermia variabilis et progressiva 3

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.
Synonyms
None
Cross References
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