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Epidermolysis bullosa dystrophica

rare

A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.

Identifiers
MONDO:0006543 Orphanet:303
Part of
Inherited epidermolysis bullosa
Also known as
DEB · dermolytic epidermolysis bullosa · epidermolysis bullosa, dermolytic

Subtypes

All diseases Rare only
Disease Subtypes
  1. Recessive dystrophic epidermolysis bullosa MONDO:0009179 1
  2. Acral dystrophic epidermolysis bullosa MONDO:0015552
  3. Centripetalis recessive dystrophic epidermolysis bullosa MONDO:0019521
  4. Dystrophic epidermolysis bullosa pruriginosa MONDO:0011398 COL7A1
  5. Dystrophic epidermolysis bullosa, nails only MONDO:0015553
  6. Epidermolysis bullosa dystrophica Neurotrophica MONDO:0009178
  7. Epidermolysis bullosa dystrophica with subcorneal cleavage MONDO:0800206
  8. Generalized dominant dystrophic epidermolysis bullosa MONDO:0007549 COL7A1
  9. Localized dystrophic epidermolysis bullosa MONDO:0035349
  10. Pretibial dystrophic epidermolysis bullosa MONDO:0007552 COL7A1
  11. Recessive dystrophic epidermolysis bullosa-generalized other MONDO:0019522
  12. Transient bullous dermolysis of the newborn MONDO:0007548 COL7A1

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