Epidermolysis bullosa simplex due to plakophilin deficiency
Epidermolysis bullosa simplex due to plakophilin deficiency
Definition
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
Also known as ectodermal dysplasia-skin fragility syndrome, McGrath syndrome — per MONDO