Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members.

The article describes the case of epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia in a 28-year-old Japanese man. Topics discussed include asymptomatic reticulate hyper- and hypopigmentation on the trunk and extremities, anomalous polymorphous keratinocytes with dilated intercellular spaces, and p.P25L mutation in KRT5 in all the affected family members.