Epidermolysis bullosa simplex, generalized

Alternate names

EBS, generalized; Generalized EBS; Epidermolysis bullosa simplex, Koebner type; EBS-K; Epidermolysis bullosa simplex, generalized non-Dowling-Meara

Definition

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.

Types and causes

• 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.

Inheritance

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

Signs and symptoms

• Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy.
• Blisters occur in areas where skin rubs together, or after minor injuries.
• Other features of EBS include nail involvement, thickening of the skin on the palms of the hands and soles of the feet, and small bump-like cysts known as milia.
• The symptoms of this condition can be very different from person to person, ranging from mild blistering of the hands and feet to blistering that occurs all over the body that can be fatal.

Diagnosis

• 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.

Treatment

• 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.

NIH genetic and rare disease info

• NIH info on Epidermolysis bullosa simplex, generalized

Epidermolysis bullosa simplex, generalized is a rare disease.

Epidermolysis bullosa simplex, generalized Resources
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