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GENATLAS PHENOTYPE
last update : 15/03/2008
Symbol EBDR
Location 3p21.31
Name epidermolysis bullosa dystrophic, severe generalized
Other name(s) epidermolysis bullosa dystrophica, Hallopeau-Siemens type
Corresponding gene COL7A1
Other symbol(s) EBR1, RDEB
Main clinical features
  • may be present at birth or appear in infancy
  • hands, feet, elbows, and knees are sites of predilection, bullae also develop on the mucosal surfaces and even the conjunctiva and cornea may be involved
  • high inducibility of blisters
  • frequent extracutaneous involvement, renal anomalies, cardiomyopathy, delayed puberty, osteoporosis
  • risk of squamous cell carcinoma and malignant melanoma
  • high risk of death by age 30
    • Genetic determination autosomal recessive
    Related entries including cases of EB localisata
    Function/system disorder dermatology
    Type disease
    Gene product
    Name collagen type VII, alpha 1 (COL7A1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   absent protein c.7245G>A base substitution leading to a complex splicing abnormality that allows marginal levels of functional mRNA and protein to be synthesized
    various types     missence, nonsense, del, ins, spl
    Remark(s) allelic 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)
    Genotype/Phenotype correlations modifier gene MMP1 having implications for the prognosis and possible new treatments