The mutation responsible for Junctional Epidermolysis Bullosa (JEB) in Belgian draft horses in North America and other draft breeds in Europe has been identified. The mutation, a cytosine insertion (1368 insC) in the LAMC2 gene, results in absent expression of the laminin γ2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait. A polymerase chain reaction (PCR) test ...

Epidermolysis bullosa is a chronic hereditary disease of unknown aetiology involving the skin and mucous membranes. It is characterized by the formation of multiple superficial vesicles and bullae which develop spontaneously or as a result of minimal trauma. The disease may occur in varying grades of severity but there is one form with distinct characteristics which has been classified as epide...

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 r...

BACKGROUND Anemia is a common complication of epidermolysis bullosa (EB). To date, no extensive data on the prevalence of anemia in EB patients have been well characterized worldwide. OBJECTIVE To determine and to characterize the prevalence of anemia in the Australian EB population by conducting a retrospective cross-sectional study. METHODS All (n = 368) EB patients registered in the Aust...

Epidermolysis bullosa (EB) is a genetically and clinically variable disease characterized by blis‐ ter formation and erosions of the skin and mucous membranes after minor trauma [1]. The in‐ heritance of the affected genes can occur in a dominant or recessive way depending on the subform of the disease. In general, epidermolysis bullosa is caused by mutations in genes en‐ coding structural prot...

Epidermolysis bullosa is a serious disease characterized by recurrent ulceration caused genetic abnormalities in the epidermal-dermal junction of skin, however, there still no curative treatment for this disease. In recent years, CRISPR-Cas9 brought about innovation gene editing technology. Recently, we have developed tool called CRISPR-Cas3 that causes large deletions hundreds to tens thousand...