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GENATLAS PHENOTYPE
last update : 04/10/2008
Symbol EBS2A
Location 12q13.2-q13.3
Name epidermolysis bullosa simplex, generalized other
Other name(s) EBS Koebner type
Corresponding gene KRT5
Main clinical features
  • onset during the first 3 months of life, characterized by generalized bullae in herpetiform arrangement
  • serous and hemorrhagic blisters occur on any part of the body, but most frequently on the palms and soles, around the mouth, and on the trunk and neck
  • electron microscopy shows basal cell vacuolization and dissolution of tonofibrils
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 5,type II (KRT5)
    Remark(s)