Epidermolysis Bullosa Simplex (EBS)
Epidermolysis Bullosa Simplex is the most common type of EB, accounting for around 70% of cases. It is usually dominantly inherited and involves disorders of the genes for Keratin 5 and 14, and Plectin.
EBS may be localised to the hands and feet or there may be a generalised distribution with relatively mild internal involvement.
Those with EBS may have thickened calluses on palms and soles, oral blistering during infancy and rough, thickened fingernails and toenails. EBS does not usually scar. There are rare recessive forms. EBS with plectin mutations may be associated with muscular dystrophy.
Researchers have identified 4 main sub-types of EBS:
- Localised EBS (formerly Weber-Cockayne type),
- EBS intermediate (formerly EBS generalised or Koebner type)
- EBS severe (formerly EBS generalised severe or Dowling-Meara EBS), and
- EBS with mottled pigmentation