Thelansis

  Dystrophic epidermolysis bullosa is one of the most common types of epidermolysis bullosa. The skin is expected to be highly fragile and to blister easily. Blisters and skin erosions result from minor injury or friction, such as scratching or rubbing. Dystrophic epidermolysis bullosa signs and symptoms vary widely among individuals. In mild cases, blistering may primarily affect the hands, knees, feet, and elbows. Severe cases of this condition cause widespread blistering, which can result in vision loss, scarring, and other serious medical problems. Mutations cause DEB in the COL7A1 gene encoding type VII collagen. Type VII collagen is a major component of the anchoring fibril located below the basement membrane in the upper dermis, providing stable dermal-epidermal adhesion. Type VII collagen is a homotrimer composed of three proα1 (VII) chains which are encoded by the 32 kb COL7A1 gene on chromosome 3p21. DEB has two patterns of inheritance: autosomal dominant (DDEB) and aut...

 Dystrophic epidermolysis bullosa is one of the most common types of epidermolysis bullosa. The skin is expected to be highly fragile and to blister easily. Blisters and skin erosions result from minor injury or friction, such as scratching or rubbing. The Dystrophic epidermolysis bullosa signs and symptoms vary widely between individuals. In mild cases, blistering may primarily affect the hands, knees, feet, and elbows. Severe cases of this condition cause widespread blistering, which can result in vision loss, scarring, and other serious medical problems. Mutations cause DEB in the COL7A1 gene encoding type VII collagen. Type VII collagen is a major component of the anchoring fibril located below the basement membrane in the upper dermis, providing stable dermal-epidermal adhesion. Type VII collagen is a homotrimer composed of three proα1 (VII) chains which are encoded by the 32 kb COL7A1 gene on chromosome 3p21. DEB has two patterns of inheritance: autosomal dominant (DDEB) and ...