Peripheral neuro-immune pathology in recessive dystrophic epidermolysis bullosa

Chronic pain and itch are substantial quality-of-life obstacles for patients with the genetic skin disorder recessive dystrophic epidermolysis bullosa (RDEB). RDEB is caused by lossof-function mutations in the anchoring fibril protein type VII collagen. Extreme skin fragility leads to chronic wounds and inflammation that is accompanied by significant pain and itch. Itchy skin has consistently rated as the highest burden in RDEB patients (Danial et al., 2014; van Scheppingen et al., 2008), and another study found that 93% of dystrophic EB patients experienced itch symptoms (Snauwaert et al., 2014). Compounding the burden of itching in RDEB, scratching can be associated with new lesions and secondary infection, exacerbating the disease’s symptoms and undermining treatment.