Congenital dystrophic epidermolysis bullosa, defect is in
Epidermolysis bullosa (EB) is a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Those with mild cases may not develop symptoms until they sta to crawl or walk The human skin consists of two layers: an outermost layer called the epidermis and a layer underneath called the dermis. In individuals with healthy skin, there are protein anchors between these two layers that prevent them from moving independently from one another (shearing). In people born with EB, the two skin layers lack the protein anchors that hold them together, resulting in extremely fragile skin--even minor mechanical friction (like rubbing or pressure) or trauma will separate the layers of the skin and form blisters and painful sores. Sufferers of EB have compared the sores with third-degree burns. Fuhermore, as a complication of the chronic skin damage, people suffering from EB have an increased risk of malignancies (cancers) of the skin Ref Harrison20th edition pg 1332
Laminin 4
Collagen 4
Collagen 7
Collagen 3
Vestibulobullous disorders