Epidermolysis bullosa simplex
Other Names for this Disease
- Epidermolysis bullosa intraepidermic
- Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysis bullosa
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, generalized
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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.
- Epidermolysis bullosa simplex. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed 5/5/2010.
- EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). 2003; http://www.debra.org/modules.php?op=modload&name=News&file=article&sid=18. Accessed 5/5/2010.