Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and mali...

The mutation responsible for Junctional Epidermolysis Bullosa (JEB) in Belgian draft horses in North America and other draft breeds in Europe has been identified. The mutation, a cytosine insertion (1368 insC) in the LAMC2 gene, results in absent expression of the laminin γ2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait. A polymerase chain reaction (PCR) test ...

BACKGROUND Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant com...

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Epidermolysis bullosa is a genetic mechanobullous disease of the stratified squamous keratinizing epithelium that affects the skin and mucous membranes. Its primary feature is the formation of blisters after minor shearing trauma to the skin or mucous membranes that can result in debilitating, even life-threatening scarring. The disease presents special problems for the anesthesia provider beca...

Epiligrin, the major component of human keratinocyte extracellular matrix, serves as the preferred integrin ligand for alpha 3 beta 1 in plasma membranes and focal adhesions, and colocalizes with alpha 6 beta 4 in hemidesmosomes. In human skin, epiligrin is found in the lamina lucida subregion of epidermal basement membrane, where it is thought to be associated with anchoring filaments. We have...

Multiple observations point to involvement of lipid membrane domains, known as lipid rafts, in the pathology of human disorders. The putative role of lipid rafts in hereditary and acquired skin blistering diseases is discussed in this review. Stable adhesion of the epidermis to the underlying basement membrane is secured by hemidesmosomes, specialized multiprotein complexes in basal keratinocyt...