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Epidermolysis bullosa simplex
Related Diseases
- 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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Overview
Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory.The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS). [1] Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases.[2] Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.[3]
References
- Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010. http://www.ojrd.com/content/5/1/12. Accessed July 6, 2011.
- Epidermolysis Bullosa Simplex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex. Accessed January 19, 2011.
- Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp#6. Accessed January 19, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Epidermolysis bullosa simplex have been answered. See questions and answers. You can also submit a new question.
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General Information
- Genetics Home Reference (GHR) contains information on Epidermolysis bullosa simplex. Click on the link to go to GHR and review the information.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of epidermolysis bullosa simplex (EBS). Click on the links below to go to OMIM and review these resources.
EBS, Weber-Cockayne type http://www.ncbi.nlm.nih.gov/omim/131800
EBS, Koebner type http://www.ncbi.nlm.nih.gov/omim/131900
EBS, Dowling-Meara type http://www.ncbi.nlm.nih.gov/omim/131760
EBS with mottled pigmentation http://www.ncbi.nlm.nih.gov/omim/131960
EBS, autosomal recessive http://www.ncbi.nlm.nih.gov/omim/601001 - Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolysis bullosa simplex. Click on the link to view a sample search on this topic.