epidermolytic hyperkeratosis 2

Term ID

DOID:0081359

Synonyms

Definition

An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/19474805/

References

• OMIM:620150

Ontology

Human Disease   ( DOID:0081359 )