Autoimmune Disease

Autoimmune diseases arise when substances and tissues normally present in the body trigger an abnormal immune response. At UCD Charles Institute of Dermatology, our research teams are working to understand the mechanisms and find treatment for the following autoimmune disease that impacts skin:

EB is a family of genetic skin diseases characterised by skin fragility. Its clinical severity varies, with the resultant spectrum of symptoms and complications depending on the genetic subtype.

Minor friction or trauma can lead to blistering and wound formation affecting skin and mucous membranes. This may also lead to secondary complications including infection, sepsis, deformities and skin cancer. One very important, albeit poorly understood symptom in EB is chronic recalcitrant itch (pruritus).

Recent publications have highlighted the prevalence and significance of itch in 85% of patients. Indeed, patients have reported itch as being the most bothersome of their EB symptoms. It results in impaired quality of life, disturbed sleep and complications from scratching. Disappointingly however, specific itch treatment with consistent and sustained benefit is lacking. 

By identifying and characterising key itch pathways, receptor’s and mediators (neuropeptides, proteases, cytokines, chemokines or growth factors) involved in itch, in different EB subtypes we hope to gain new insights and understanding into the underlying pathophysiology of this severe and distressing symptom.

In particular, our human study focusing on identifying the key itch pathway(s) important in EB in vivo and ex vivo is the first-of-its-kind and represents an essential first step towards the development of mechanism-based, subtype-oriented therapies in EB.