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epidermolysis bullosa simplex (EBS)
Pathology:
- blistering occurs in epidermis
- generally milder than EB junctional or EB dystrophica which affect deeper layers
Genetics:
- various forms of EBS:
- Koebner type EBS (EBS2)
- Weber-Cockayne type EBS
- Dowling-Meara type EBS associated with mutations in keratin 5 or keratin 14 genes
Specific
epidermolysis bullosa simplex superficialis (EBSS); epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC)
epidermolysis bullosa simplex with migratory circinate erythema (EBSMCE)
epidermolysis bullosa simplex with mottled pigmentation
epidermolysis bullosa simplex with pyloric atresia (EBS-PA)
epidermolysis bullosa simplex, autosomal recessive
epidermolysis bullosa simplex, Dowling-Meara type; epidermolysis bullosa herpetiformis, Dowling-Meara type (EBS-DM)
epidermolysis bullosa simplex, Koebner type
epidermolysis bullosa simplex, Ogna type
epidermolysis bullosa simplex, Weber-Cockayne type; Cockaye-Touraine type epidermolysis bullosa; epidermolysis bullosa of hands & feet
General
epidermolysis bullosa
genetic disease of the skin (genodermatosis)
References
- OMIM :accession 601001, 131760, 131900, 131950
- Harrison's Principles of Internal Medicine, 14th ed.,
Fauci et al eds., 1998, p2193-4