Epidermolysis bullosa simplex, generalized
- EBS, generalized
- Epidermolysis bullosa simplex, generalized non-Dowling-Meara
- Epidermolysis bullosa simplex, Koebner type
- Generalized EBS
Your QuestionMy 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is epidermolysis bullosa simplex?
- What is epidermolysis bullosa simplex, generalized?
- How is epidermolysis bullosa simplex inherited?
- How might epidermolysis bullosa simplex be treated?
- How can I learn about research related to epidermolysis bullosa simplex?
- Are there any support organizations for epidermolysis bullosa in Spain?
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. 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. 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.
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.
ClinicalTrials.gov lists trials that are studying or have studied epidermolysis bullosa simplex. Click on the link to go to ClinicalTrials.gov 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
Jo-David Fine, M.D, M.P.H.
Madeline Weiner, R.N.
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|
- Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex. Accessed 6/10/2015.
- EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). http://www.debra.org/simplex#koebner. Accessed 6/10/2015.