Endeavor to elucidate the mechanisms of skin fibrosis in recessive dystrophic epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is a group of genetic skin blistering diseases. Clinically, individuals with EB are characterized by fragile skin and blister formations induced by minor trauma. Dystrophic epidermolysis bullosa (DEB) is one of the four major subtypes of EB, affecting around 25 per cent of people affected by EB, and can range from mild to severe. In mild cases blistering can mainly affect the hands, feet, knees and elbows, whereas severe cases often involve widespread blistering that can cause severe fibrosis such as adhesion of digits, aggressive cutaneous squamous cell carcinoma, and other medical problems. Expert dermatologist Dr Eijiro Akasaka, who is based at the Department of Dermatology, Hirosaki University Graduate School of Medicine in Japan, explains that the disorder is caused by mutations in the gene encoding type VII collagen, COL7A1, and is inherited in both autosomal dominant and recessive trait. 'The recessive inheritable types (RDEB) can lead to disability and reduced life expectancy,' he explains. 'Currently, there is no safe and effective treatment for RDEB but we are striving to develop one.'