Epidermolysis bullosa simplex, generalized

What is the cause of epidermolysis bullosa simplex generalized?

The four most common types of epidermolysis bullosa simplex generalized are caused by genetic changes in one of four different genes, EXPH5, TGM5, KRT5 or KRT14. These genes all make proteins that are involved in the production or maintenance of the skin.

Last updated on 05-01-20

How is epidermolysis bullosa simplex generalized diagnosed?

Epidermolysis bullosa simplex (EBS) generalized is diagnosed based on the characteristic symptoms including fragile skin and blisters that are caused by minor injury. Genetic testing can also aid in the diagnosis.

Last updated on 05-01-20

How is epidermolysis bullosa simplex, generalized inherited?

Epidermolysis bullosa simplex (EBS) generalized that is associated with genetic changes in either the KRT5 or KRT14 genes is 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:

25% (1 in 4) chance to have the disorder
50% (1 in 2) chance to be an unaffected carrier like each parent
25% (1 in 4) chance to be unaffected and not be a carrier

Last updated on 05-01-20

How might epidermolysis bullosa simplex be treated?

There is no cure for epidermolysis bullosa simplex. Treatment is directed towards the symptoms and is largely supportive. Many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have minimal symptoms and may require little or no treatment. For individuals with more severe forms, treatment involves specialized wound care, preventing infection, pain management, nutrition, and physical and occupational therapy to help protect the skin against trauma. Sometimes surgery is necessary. Psychological support for the patient and other family members can also be helpful.

Last updated on 05-01-20

Name: Dystrophic Epidermolysis Bullosa Research Association of America DEBRA of America 75 Broad Street Suite 300
New York, NY, 10004, United States
Phone: 212-868-1573 Toll Free: 855-CURE-4-EB Fax : 212-868-9296 Email: staff@debra.org Url: http://www.debra.org
Name: Genetic Skin Disease Center Stanford Medical Dermatology Clinic Stanford Medicine Outpatient Center
450 Broadway Pavilion B, 4th Floor
Redwood City, CA, 94063, United States
Phone: 650-723-6316 Fax : 650-725-7711 Url: http://dermatology.stanford.edu/contact/
Name: Epidermolysis Bullosa Center The EB Center Cincinnati Children's Hospital Medical Center
MLD 3004 3333 Burnet Avenue
Cincinnati, OH, 45229-3039, United States
Phone: 513-636-2009 Email: ebcenter@cchmc.org Url: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa
Name: DebRA International Am Heumarkt 27/3 1030 Vienna
Phone: +43 1 876 40 30-0 Fax : +43 1 876 40 30-30 Email: office@debra-international.org Url: http://www.debra-international.org/
Name: Epidermolysis Bullosa Medical Research Foundation EBMRF 2757 Anchor Ave
Los Angeles, CA, 90064,
Phone: +1-310-205-5119 Email: a.pett@bep-la.com Url: https://ebmrf.org/
Epidermolysis bullosa National Organization for Rare Disorders (NORD). Updated 2013; Reference Link Epidermolysis bullosa simplex, generalized Online Mendelian Inheritance in Man (OMIM). Updated Nov 2016; Reference Link Cohn H, Teng JM. Advancement in management of epidermolysis bullosa Curr Opin Pediatr. Aug 2016; 28(4). 507-516. Reference Link Pfendner EG and Bruckner AL. Epidermolysis bullosa simplex GeneReviews. Updated Oct 2016; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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