Epidermolysis Bullosa/Буллезный эпидермолиз

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Epidermolysis Bullosa/Буллезный эпидермолиз by Mind Map: Epidermolysis Bullosa/Буллезный эпидермолиз

1. Dystrophic Epidermolysis Bullosa/ Дистрофический буллезный эпидермолиз

1.1. Dystrophic epidermolysis bullosa is an inherited variant affecting the skin and other organs.Dystrophic epidermolysis bullosa is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).

2. Epidermolysis Bullosa Simplex/ Простой буллезный эпидермолиз

2.1. Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. It typically affects the hands and feet

3. Junctional Epidermolysis Bullosa/ Пограничный буллезный эпидермолиз

3.1. 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.

4. Kindler's Syndrome/Синдром Киндлера

4.1. Rare type of EB, caused by mutation of Kindlin-1 gene. Blisters hands and feet due to excessive sensitivity to sunlight with a tendency to sunburn.