erythrokeratodermia variabilis et progressiva 6

Term ID

DOID:0080766

Synonyms

Definition

An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/30528822/

References

• OMIM:618531

Ontology

Human Disease   ( DOID:0080766 )