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Epidermolysis bullosa simplex, generalized

Other Names for this Disease
  • EBS, generalized
  • EBS-K
  • Epidermolysis bullosa simplex, generalized non-Dowling-Meara
  • Epidermolysis bullosa simplex, Koebner type
  • Generalized EBS
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Your Question

My infant nephew has been diagnosed with epidermolysis bullosa simplex, Koebner type. We were told that this is a genetic condition, even though no other members of our family are affected. We live in Spain and have not received much information. How is epidermolysis bullosa inherited? Can it be treated? How can we learn about research that may be occurring throughout the world?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is epidermolysis bullosa simplex?

Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering may primarily affect the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Some cases may be life-threatening in infancy. Researchers have identified four major types of epidermolysis bullosa simplex. Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms.[1]

Last updated: 5/5/2010

What is epidermolysis bullosa simplex, Koebner type?

Epidermolysis bullosa simplex, Koebner type is a form of generalized epidermolysis bullosa simplex. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface.[1][2] Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age.[2] All four major types of epidermolysis bullosa simplex, including the Koebner type, are caused by mutations in the KRT5 and KRT14 genes.[1][2] This condition is usually inherited in an autosomal dominant fashion.[1]
Last updated: 5/5/2010

How is epidermolysis bullosa simplex inherited?

Epidermolysis bullosa simplex (EBS) is usually inherited in an autosomal dominant pattern, which means one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent, or it may occur for the first time in the affected individual.[1][2] When an individual affected with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and be affected.

In rare cases, EBS is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when both copies of the gene in each cell have a mutation (one copy inherited from each parent). The parents of an individual with an autosomal recessive condition typically each carry one copy of the mutated gene and are referred to as carriers. Carriers are typically unaffected and do not have signs or symptoms of the condition.[1] When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% risk to not have the condition and not be a carrier.

Affected individuals or family members who are unsure of the inheritance pattern of EBS in their family and are interested in learning more about this should consult with a genetics professional.

Last updated: 8/7/2012

How might epidermolysis bullosa simplex be treated?

There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, 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. In all cases, treatment is directed towards the symptoms and is largely supportive. This care should focus on prevention of infection, protection of the skin against trauma, attention to nutritional deficiencies and dietary complications, minimization of deformities and contractures, and the need for psychological support for the patient and other family members.[2] 

Detailed information regarding prevention of blisters, care of blisters and infections, and management of nutritional problems can be accessed through the National Institute of Arthritis and Musculoskeletal and Skin  Diseases (NIAMS) and article from the eMedicine journal.
Last updated: 5/6/2010

How can I learn about research related to epidermolysis bullosa simplex? lists trials that are studying or have studied epidermolysis bullosa simplex. Click on the link to go to to read descriptions of these studies. Broader studies including all types of epidermolysis bullosa can be located by clicking here.

The National Epidermolysis Bullosa Registry collects information from patients, characterizes the many different forms of epidermolysis bullosa and determines risks of various symptoms associated with the disease. The information is used for research to improve understanding and provide better treatment of epidermolysis bullosa. The registry is also a resource for initial diagnostic testing of patients.

National Epidermolysis Bullosa Registry
c/o Vanderbilt University Medical Center
Nashville,  TN 

Jo-David Fine, M.D, M.P.H.
Phone: 615-329-0801

Madeline Weiner, R.N.
Phone: 919-929-1855

Last updated: 5/6/2010

Are there any support organizations for epidermolysis bullosa in Spain?

Yes. There is a division of the DEBRA organization located in Spain. This organization can assist you and your family.

Asociación “Piel de Mariposa” (AEBE)
c/Real, Conj Puertogolf blq 4, 1ºC
29660 Nueva Andalucía, Marbella, Málaga, Spain

Contact:   Evanina M Makow
Phone:   + 34 952 816 434
Fax:   + 34 952 816 434
Last updated: 5/6/2010