Epidermolysis Bullosa

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Epidermolysis Bullosa by Mind Map: Epidermolysis Bullosa

1. EB Simplex

1.1. Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes KRT5 and KRT14.

2. Junctional EB

2.1. Junctional epidermolysis bullosa is an inherited disease affecting laminin and collagen. This disease is characterised by blister formation within the lamina lucida of the basement membrane zone:599 and is inherited in an autosomal recessive manner.

2.1.1. Non-Herlitz JEB

2.1.2. Herlitz JEB

3. Dystrophic EB

3.1. Dystrophic epidermolysis bullosa is an inherited variant affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as a butterfly's wings. Dystrophic epidermolysis bullosa is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).[11] DEB-causing mutations can be either autosomal dominant or autosomal recessive.

4. Kindler's Syndrome

4.1. Kindler's Syndrome also known as "Bullous acrokeratotic poikiloderma of Kindler and Weary. It is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.