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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-03-2009
Symbol EBDRO
Location 3p21.31
Name epidermolysis bullosa dystrophic, generalized other
Other name(s) epidermolysis bullosa dystrophica, non-Hallopeau-Siemens type
Corresponding gene COL7A1
Other symbol(s) RDEB
Main clinical features
  • severity intermediate between EB dominant type and Hallopeau-Siemens type
  • generalized, moderate extra cutaneous involvement
  • moderate risk of squamous cell carinoma and of death by age 30
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s) dystrophic EB subtypes includes: DDEB, generalized ( previous name Pasini and Cockaine-Touraine type), RDEB, severe generalized ( Hallopeau-Siemens) and RDEB generalized other (non-Hallopeau-Siemens type),