erythrokeratodermia variabilis et progressiva 3

Term ID

DOID:0080249

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/25398053/

References

• OMIM:617525

Ontology

Human Disease   ( DOID:0080249 )