KRT5

constitutional mutations

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.

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