KRT5
MIM.148040 12q13
Pathology
germline mutations of KRT5
- in Dowling-Meara type epidermolysis bullosa simplex (MIM.131760)
- in Koebner type epidermolysis bullosa simplex (MIM.131900)
- in Weber-Cockayne type epidermolysis bullosa simplex (MIM.131800)
- in epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) (MIM.131960)
- in Dowling-Degos disease (DDD)
- Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures.
See also
KRTs
epidermolysis bullosa