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GENATLAS PHENOTYPE
last update : 24/09/2008
Symbol EBS5B
Location 17q21.2
Name epidermolysis bullosa herpetiformis, Dowling-Meara type
Other name(s) epidermolysis bullosa simplex, Dowling-Meara type
Corresponding gene KRT14
Main clinical features
  • onset during the first 3 months of life, characterized by generalized bullae in herpetiform arrangement, with serous and hemorrhagic blisters on any part of the body, but most frequently on the palms and soles, around the mouth, and on the trunk and neck
  • ultrastructurally, intraepidermal blister formation via cytolysis of the basal cells, preceded by clumping of tonofilaments and attachment of condensed keratin filaments to the hemidesmosomes, is pathognomonic of this disorder
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 14, type I (KRT14)
    Remark(s)