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Genetic and Rare Diseases Information Center (GARD)

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Epidermolysis bullosa simplex with mottled pigmentation


Other Names for this Disease
  • EBS with mottled pigmentation
  • EBS-MP
  • Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
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Overview


Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB 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.[1] In EB simplex with mottled pigmentation, blistering may begin at birth.[2] People with this condition have a mottled appearance of their skin (ie., darker and lighter colored spots of skin).[2] Their skin may seem to age more quickly and bruise easily.[2] EB simplex with mottled pigmentation is caused by a mutation in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.[2]
Last updated: 9/7/2011

References

  1. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed 4/22/2010.
  2. Epidermolysisi bullosa simplex with mottled pigmentation. OMIM. 2009; http://omim.org/entry/131960. Accessed 9/7/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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