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Epidermolysis bullosa

From SNPedia

Epidermolysis bullosa (EB) refers to a group of inherited connective tissue disorders that involve the formation of blisters following trivial trauma. Over 300 mutations have been identified in this condition. Inheritance is either dominant or recessive, depending primarily on the type of EB. They have been classified into the following types:Wikipedia

  • DEB: dystrophic epidermolysis bullosa (~25% of EB cases; Dominant or recessive mutations in the COL7A1 gene); three common subtypes:
    • DDEB generalized (DDEB-G)
    • rDEB generalized severe (RDEB-GS)
    • rDEB generalized intermediate (RDEB-GI)

  • EBS: epidermolysis bullosa simplex (~75% of EB cases; usually dominant KRT5 or KRT14 mutations); four common subtypes:
    • Weber-Cockayne type (EBS-WC)
    • Dowling-Meara type (EBS-DM)
    • Koebner type (EBS-K)
    • mottled type (EBS-M)

  • JEB: junctional epidermolysis bullosa (~5% of EB cases; LAMA3, LAMB3, LAMC2 recessive mutations); two common subtypes:
    • Herlitz JEB (JEB-H)
    • non-Herlitz JEB (JEB-nH; a less severe form)

  • KS: Kindler syndrome: FERMT1 gene mutations