epidermolysis bullosa simplex with mottled pigmentation

Pathology

• intraepidermal epidermolysis bullosa

Genetics

• associated with defects in KRT5

Clinical manifestations

• blistering at acral sites & 'mottled' pigmentation of the trunk & proximal extremities with hyperpigmentation & hypopigmentation macules

More general terms

• epidermolysis bullosa simplex (EBS)

Database

• OMIM: https://mirror.omim.org/entry/131960