Metrics details. Epidermolysis Bullosa EB is a group of rare genetic disorders resulting in skin fragility and other symptoms. An international multidisciplinary panel of social and health care professionals HCP and people living with EB was formed. The resulting papers underwent systematic selection and critique processes.
Epidermolysis Bullosa Research Papers
Epidermolysis bullosa - NHS
Junctional epidermolysis bullosa JEB is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss erosions form in response to minor injury or friction, such as rubbing or scratching. Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body.
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex intraepidermal , junctional epidermolysis bullosa within the lamina lucida of the basement membrane , dystrophic epidermolysis bullosa below the basement membrane , and Kindler epidermolysis bullosa mixed skin cleavage pattern. Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa.