The results of the current study can only therefore provide indications that require further research for their substantiation. Despite these limitations, this study provides new insights into the interactions of children with EB and their parents.
Our findings suggest that coping strategies are related to the quality of life of children with EB and their parents. Children who are able to accept the disease or distance themselves emotionally from it appear to be better off in contrast to those who tend to show emotional reactions or cognitive-palliative strategies.
The emotional and social functioning of parents who are inclined to show more emotional reactions appears to be lower than that of parents who show fewer emotional reactions, while the use of avoidance as strategy seems to be linked to positive emotions. Further research is needed to investigate the causal relationships between the quality of life and coping strategies of children with EB and their parents.
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There are many types of EB Simplex. Most are caused by an autosomal dominant genetic mutation that leads to a defective keratin protein. Keratin proteins function as the scaffolding for the skin. When this scaffolding is not formed correctly, the skin is more likely to fall apart and form blisters. EB Simplex can be split up into two main types, Generalized and Localized. Blistering occurs all over the body in Generalized EB Simplex.
Blistering only occurs in areas that receive the most trauma, usually the hands and feet, in the more common Localized EB Simplex. Junctional EB is an autosomal recessive condition that is caused by mutations in the genes that code for collagen 17 or laminin 5. Collagen 17 and laminin 5 are proteins that help anchor the skin together. Without them, the skin separates easily, causing blisters.
Because this disease is autosomal recessive, parents can carry the genetic mutations and be completely healthy. Affected patients receive one copy of the abnormal gene from each parent see "How is EB inherited? There are many types of Junctional EB, and all of them cause widespread blistering.
Some forms of Junctional EB improve as the patient gets older. A rare form of Junctional EB can be fatal in infancy. Dystrophic EB is caused by a mutation in the collagen 7 gene and can be dominant or recessive.
Home Diseases Epidermolysis bullosa. Back to List of Questions. Question Question. I have a "mild" form of EB. Diagnosed at 8 years old. If I pass this gene on to my child will they also have a mild form or will it be a severe form of EB? Neither one of my parents have this disease, nor do my siblings. Answer Answer. The following information may help to address your question: How is epidermolysis bullosa inherited?
Inheritance of epidermolysis bullosa EB may be either autosomal dominant or autosomal recessive , depending on the type and subtype of inherited EB present: Epidermolysis bullosa simplex EBS, the most common type of EB is almost always inherited in an autosomal dominant manner, but rare autosomal recessive forms have been reported.
Epidermolysis bullosa EB can have either an autosomal dominant or autosomal recessive mode of inheritance in epidermolysis bullosa simplex EBS and dystrophic epidermolysis bullosa DEB. Kindler syndrome and junctional epidermalysis bullosa with the exception of one report, to our knowledge are autosomal recessive. A de novo dominant mutation is the more likely mode of inheritance. The two modes of inheritance can usually be distinguished based on results of immunohistochemistry testing.
Symptoms, severity, and other types of lab results alone are not sufficient. However in several affected families, a person with a mutation for dominant DEB had no signs of the disease.
For information on current investigational treatments clinical trials please click here. For information about EB research at Stanford, please click here. There are many types of EB Simplex and most are caused by an autosomal dominant gene mutation that leads to a defective keratin protein. Keratin proteins function as the scaffolding for the skin, and so when this scaffolding is not formed correctly, the skin is more likely to fall apart and form blisters. EB Simplex can be split up into two main types, Generalized and Localized.
In Generalized EB Simplex, blistering occurs all over the body, and in the more common Localized EB Simplex blistering only occurs in areas that receive the most trauma, usually the hands and feet. Junctional EB is an autosomal recessive condition that is caused by mutations in the genes that code for collagen 17 or laminin Collagen 17 and laminin are proteins that help anchor the skin together. Without them the skin separates easily, causing blisters.
There are many types of Junctional EB, and all of them cause widespread blistering. Some forms of Junctional EB improve as the patient gets older, while a rare form of Junctional EB can be fatal in infancy. Because this disease is autosomal recessive, parents can carry the genetic mutations and be completely healthy. Afflicted patients receive one copy of the abnormal gene from each parent see " How is EB inherited? Dystrophic EB is caused by a mutation in the collagen 7 gene and can be dominant or recessive.
The collagen gene codes for the collagen7 protein that anchors the deeper layer of skin, called the dermis, to the epidermis, or superficial layer of skin. When an individual has an abnormal collagen protein, the skin is fragile and separates easily, forming blisters. Both dominant and recessive forms of Dystrophic EB cause scarring.
An individual with dominant Dystrophic EB generally experiences mild to moderate blistering of the skin, but only a small amount of blistering of the mouth, esophagus, and GI tract.
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