What Is Epidermolysis Bullosa Simplex, Generalized?
Source: Genetic and Rare Diseases (GARD) Information Center
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Epidermolysis Bullosa Simplex, Generalized
Generalized EBS; Autosomal Dominant Generalized EBS; Epidermolysis Bullosa Simplex Koebner Ttype; EBS-K
Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. Explore symptoms, causes, and genetics of this rare disease.
Boy with Epidermolysis bullosa (EB)
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Epidermolysis bullosa simplex
Image by James Heilman, MD
Source: Genetic and Rare Diseases (GARD) Information Center
Mutation
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Source: Genetic and Rare Diseases (GARD) Information Center
Autosomal Dominant and Baby
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Epidermolysis bullosa simplex (EBS) generalized that is associated with genetic changes in either the KRT5 or KRT14 genesis inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. In autosomal dominant EBS, having a mutation in just one copy of the KRT5 or KRT14 gene causes the person to have the disorder. The mutation can be inherited from either parent. Some people are born with EBS due to a new genetic mutation (de novo) and do not have a history of this condition in their family. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the mutation and the condition. Offspring who inherit the mutation will have the condition, although they could be more or less severely affected than their parent.
Epidermolysis bullosa simplex (EBS) generalized that is associated with genetic changes in either the EXPH5 or TGM5 genes is inherited in an autosomal recessive pattern. To have autosomal recessive EBS, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.
People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:
Source: Genetic and Rare Diseases (GARD) Information Center
Epidermolysis bullosa (EB)
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Source: Genetic and Rare Diseases (GARD) Information Center
Genetic testing
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Source: Genetic and Rare Diseases (GARD) Information Center
Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.
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Source: Genetic and Rare Diseases (GARD) Information Center
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