Dystrophic epidermolysis bullosa – Golden Retriever

General description

Epidermolysis Bullosa (RDEB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe inherited tissue disorder that results in multiple vesicles, bullae and ulcers all over the body. Hair loss and extremely fragile skin are also typical symptoms of the disease. Symptoms can be recognized soon after birth.

In the breed Golden Retriever, a genetic variant of the COL7A1 gene has been found to be associated with epidermolysis bullosa. The COL7A1 gene encodes for collagen type VII, which is normally found in the skin between the epidermis and dermis layers and is involved in the cohesion of these layers. The variant is inherited in an autosomal recessive mode.