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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. in the US, approximately 200 children a year are born with EB (or about 1 in 20,000 births). Over 300 mutations in 18 genes have been identified as causing this disorder. Inheritance is either dominant or recessive, depending primarily on the type of EB.Wikipedia

The severity of EB is generally dependent upon many factors including type, subtype, and inheritance pattern. EB has been categorized as encompassing 5 major types (Simplex, Junctional, Dystrophic, Kindler Syndrome, Aquisita) and 31 subtypes, therefore it is commonly referred to as a group of disorders.They have been classified into the following types:

  • 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

Those born with EB are often called “Butterfly Children” because as the analogy goes, their skin is as fragile as the wings of a butterfly. A patient advocacy group with more information is Debra.

In 2017, a team of researchers reported the successful regeneration of a young EB patient's skin using transgenic stem cells.10.1038/nature24487