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References OMIM Gene GeneReviews HGMD HGNC
last update : 04/10/2008
Symbol EBS5A
Location 12q13.2-q13.3
Name epidermolysis bullosa herpetiformis, Dowling-Meara type
Other name(s) epidermolysis bullosa simplex, Dowling-Meara 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
  • . on electron microscopy of large cytoplasmic clumps of tonofilaments, which are intermediate filaments composed of keratin
    Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 5, type II (KRT5)