NEET PG DENTAL EXAM

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: -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.

Detailed explanation-3: -Type VII Collagen The main mutation investigated for COLVII is epidermolysis bullosa, a severe skin disorder. COLVII has also been reported to be involved in autoimmune diseases such as systemic lupus erythematosus, Sjögren syndrome, and systemic sclerosis.