Dowling-Meara type epidermolysis bullosa simplex
Saturday 16 April 2005
Dowling-Meara type epidermolysis bullosa simplex is considered a form of epidermolysis bullosa simplex (EBS) distinguishable from the mild localized Weber-Cockayne type (MIM.131800) and the generalized Kobner (or Koebner) type (MIM.131900) both by its greater severity and by the presence on electron microscopy of large cytoplasmic clumps of tonofilaments, which are intermediate filaments composed of keratin.
structural weakening of the epidermal basal cells, where keratins 5 and 14 are predominantly expressed.
mutation in the keratin 5 (KRT5) (MIM.148040)
mutation in the keratin 14 gene (KRT14) (MIM.148066)
Koebner type of EBS (MIM.148040)
Weber-Cockayne type of EBS (lesions are limited to the hands and feet)