#REDIRECT Epidermolysis_bullosa
In medicine (dermatology) Epidermolysis bullosa (EB) is a rare disease genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This condition is not contagious. == Forms == There are three main forms of inherited EB. These different subtypes are defined by the depth of blister location within the skin layers, and the location of the dissolution of the skin. === EB Simplex (EBS) -- ABOVE the basement membrane === Blister formation of EB simplex is within the basal keratinocyte of the epidermis. Sometimes EB simplex is called ''epidermolytic''. There are four subtypes of EBS: # EBS - Weber-Cockayne (EBS-WC) # EBS - Koebner (EBS-K) # EBS - Dowling-Meara (EBS-DM) -- caused by missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H) # EBS - Mottled Pigmentation (EBS-MP) - caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene (Koss-Harnes et al., 1997;Koss-Harnes et al., 2002). === Junctional EB (JEB) -- THROUGH the basement membrane === Blister formation in Junctional EB is seen at the level of the lamina lucida within the basement membrane zone. === Dystrophic EB (DEB) -- UNDER the basement membrane === Dystrophic EB (DEB) forms which can lead to scarring occur in a deeper tissue level; the sub-lamina densa region(the beneath the lamina densa) within the upper dermis. The disease DEB is caused by genetic defects (or mutations) within the molecule type VII collagen (collagen VII). Collagen VII is a very large molecule (780 nm) that dimerizes to forms a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a strucutral link between the epidermal basement membrane and the fibrillar collagens in the upper dermis. == Epidemiology == An estimated 2 out of every 100,000 live births are affected with some type of EB. The disorder occurs in every racial and ethnic group throughout the world and affects both sexes equally. ==External Links== * [http://www.debra.org/ DebRA] - the Dystrophic Epidermolysis Bullosa Research Association of America * [http://www.niams.nih.gov/hi/topics/epidermolysis_bullosa/epidermolysis_bullosa.htm NIH article about EB] * [http://www.geneclinics.org/profiles/ebs/details.html genetic basis of EBS] * [http://www.biology.iupui.edu/biocourses/Biol540H/EBroberts.html Medical details of EB] diseases
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Words begining with Epidermolysis_bullosa:
Epidermolysis_Bullosa
Epidermolysis_bullosa
Epidermolysis Bullosa
#REDIRECT Epidermolysis_bullosa
Epidermolysis bullosa
In medicine (dermatology) Epidermolysis bullosa (EB) is a rare disease genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This condition is not contagious. == Forms == There are three main forms of inherited EB. These different subtypes are defined by the depth of blister location within the skin layers, and the location of the dissolution of the skin. === EB Simplex (EBS) -- ABOVE the basement membrane === Blister formation of EB simplex is within the basal keratinocyte of the epidermis. Sometimes EB simplex is called ''epidermolytic''. There are four subtypes of EBS: # EBS - Weber-Cockayne (EBS-WC) # EBS - Koebner (EBS-K) # EBS - Dowling-Meara (EBS-DM) -- caused by missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H) # EBS - Mottled Pigmentation (EBS-MP) - caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene (Koss-Harnes et al., 1997;Koss-Harnes et al., 2002). === Junctional EB (JEB) -- THROUGH the basement membrane === Blister formation in Junctional EB is seen at the level of the lamina lucida within the basement membrane zone. === Dystrophic EB (DEB) -- UNDER the basement membrane === Dystrophic EB (DEB) forms which can lead to scarring occur in a deeper tissue level; the sub-lamina densa region(the beneath the lamina densa) within the upper dermis. The disease DEB is caused by genetic defects (or mutations) within the molecule type VII collagen (collagen VII). Collagen VII is a very large molecule (780 nm) that dimerizes to forms a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a strucutral link between the epidermal basement membrane and the fibrillar collagens in the upper dermis. == Epidemiology == An estimated 2 out of every 100,000 live births are affected with some type of EB. The disorder occurs in every racial and ethnic group throughout the world and affects both sexes equally. ==External Links== * [http://www.debra.org/ DebRA] - the Dystrophic Epidermolysis Bullosa Research Association of America * [http://www.niams.nih.gov/hi/topics/epidermolysis_bullosa/epidermolysis_bullosa.htm NIH article about EB] * [http://www.geneclinics.org/profiles/ebs/details.html genetic basis of EBS] * [http://www.biology.iupui.edu/biocourses/Biol540H/EBroberts.html Medical details of EB] diseases
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E
EA | EB | EC | ED | EF | EG | EH | EI | EJ | EK | EL | EM | EN | EO | EP | ER | ES | ET | EU | EW | EX | EY | EZ |Words begining with Epidermolysis_bullosa:
Epidermolysis_Bullosa
Epidermolysis_bullosa
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