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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]
References
- Epidermolysis bullosa simplex. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed April 22, 2010.
- Epidermolysisi bullosa simplex with mottled pigmentation. OMIM. http://omim.org/entry/131960. Accessed September 7, 2011.
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General Information
- PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolysis bullosa simplex with mottled pigmentation. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Epidermolysis bullosa simplex with mottled pigmentation. Click on the link to go to OMIM and review these resources.