MICROANATOMY

Detailed explanation-1: -Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII. Deficiency of collagen VII leads to skin and mucosal fragility, which progresses from skin blistering to severe fibrosis and cancer.

Detailed explanation-2: -A milder, dominant form of dystrophic epidermolysis bullosa (DDEB) results from mutations in one copy of the COL7A1 gene in each cell. In many cases, these mutations alter a part of type VII collagen known as the triple helical domain. This region gives type VII collagen its usual triple-stranded structure.

Detailed explanation-3: -One particularly severe form of EB known as recessive dystrophic EB (RDEB) occurs when the gene that codes for a protein called Type VII collagen (C7) is defective or missing.