In congenital dystrophic variety of epidermolysis bullosa, mutation is seen in the gene coding for aEUR’
Correct Answer: Collagen type 7
Description: Collagen type 7 [Ref .- Neeta Khanna 151/e p. 28-291 Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. Blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent. friction. EB should be distinguished from epidermolysis bullosa acquisita (EBA), which is an autoimmune blistering disease that is not inherited and often doesn't develop until adult life. The EB conditions result from genetic defects of molecules in the skin concerned with adhesion. Loss of adhesion results in blister, .formation. There are 3 major types of EB based on different sites of blister formation within the skin structure : Epidermolysis bullosa Site of blister formation within the skin Known targeted protein * Epidermolysis bullosa Intraepidermal Keratin 4 and 14 simplex (epidermolytic) plectin a 6134 inte? grin plakophillin -1 desmoplakin * Junctional epidermolysis Intra-lamina Weida Laminin - 332 bullosa (lamina lucidolytic) (laminin 5) : type XVII collagen, a 6134 integrin * Dystrophic epidennolysis Sublamina densa Type VII collagen bullosa (dermolytic)
Category:
Skin
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