What is epidermolysis bullosa simplex?
Collapse Section. Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching.
What part of the body is affected by epidermolysis bullosa?
Epidermolysis bullosa simplex. It develops in the outer layer of skin and mainly affects the palms and the feet. The blisters usually heal without scarring.
How does EB cause death?
Junctional Herlitz EB is due to mutations in any of the three Laminin 332 chains and can be a very severe form of EB. Death often occurs during infancy due to overwhelming infection (sepsis), malnutrition, dehydration, electrolyte imbalance or obstructive airway complications.
Epidermolysis bullosa is a group of severe blistering diseases of the skin caused by mutations in any of at least 10 genes. Mutations in keratins 5 and 14 cause epidermolysis bullosa simplex, which causes a break in the basal keratinocyte layer which, while severe in children, tends to ameliorate with age.
What causes junctional epidermolysis bullosa simplex?
Epidermolysis bullosa simplex is caused by mutations of the genes coding for keratins 5 and 14. Junctional epidermolysis bullosa has a variable molecular etiology, and mutations in genes coding for laminin 5 subunits, bullous pemphigoid antigen I, α6 integrin, and β4 integrin have been demonstrated.
What are the signs and symptoms of epidermolysis bullosa?
Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars.
What are the phenotypes of epidermolytic-uremic syndrome (EBS)?
Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes.