What is recessive dystrophic epidermolysis bullosa?

What is recessive dystrophic epidermolysis bullosa?

Recessive Dystrophic Epidermolysis Bullosa is an incurable, often fatal skin blistering condition caused by a lack of collagen protein in the skin. This makes the skin incredibly fragile, leading to blistering or skin loss at the slightest friction or knock. It is progressive and incredibly painful.

What is dystrophic epidermolysis?

Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching.

What is the life expectancy for someone with EB?

Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications. There is currently no effective treatment available.

What is epidermolysis bullosa disease?

Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters.

How do you get dystrophic epidermolysis bullosa?

Dystrophic epidermolysis bullosa The disease gene may be passed on from one parent who has the disease (autosomal dominant inheritance). Or it may be passed on from both parents (autosomal recessive inheritance) or arise as a new mutation in the affected person that can be passed on.

Is epidermolysis bullosa life threatening?

EB can range in severity from mild to life-threatening. In mild EB, the blistering tends to develop around the hands and feet. Severe EB often affects the whole body, and some complications, such as infection, feeding difficulties, and loss of nutrients through the skin, can be fatal.

How is dystrophic epidermolysis bullosa treated?

Medication is often needed to relieve the pain. Antidepressants, medicine used to treat epilepsy, and acetaminophen can be helpful. If the pain is severe, medicine like fentanyl, morphine, or ketamine can be prescribed. Before bathing and wound care, it may be necessary to give pain medication to someone with EB.

Does epidermolysis bullosa go away?

The condition usually shows up in infancy or early childhood. Some people don’t develop signs and symptoms until adolescence or early adulthood. Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones.

Can dystrophic epidermolysis bullosa be passed down?

Dystrophic epidermolysis bullosa (DEB) can be inherited in an autosomal dominant or autosomal recessive manner, depending on the subtype present.