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References OMIM Gene GeneReviews HGMD HGNC
last update : 04/10/2008
Symbol EBSMP
Location 12q13.2-q13.3
Name epidermolysis bullosa simplex with mottled pigmentation
Corresponding gene KRT5
Other symbol(s) EBS-MP
Main clinical features
  • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
  • congenital mottled appearance of the skin
  • ultrastructurally, the blistering in EBS with mottled pigmentation closely resembles that found in other EBS subtype
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 5, type II (KRT5)