About epidermolysis bullosa letalias

What is epidermolysis bullosa letalias?

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one may be either mildly or severely affected. EB ranges from being a minor inconvenience requiring modification of some activities, to being completely disabling and, in some cases, fatal.

Friction causes blister formation. Blisters can form anywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve the external surface of the eye, as well as the respiratory, gastrointestinal and genitourinary tracts. In some forms of the disease, disfiguring scars and disabling musculoskeletal deformities occur.

Currently, there is no cure for EB. Supportive care includes daily wound care, bandaging, and pain management as needed.

What are the causes for epidermolysis bullosa letalias?

Almost all types of epidermolysis bullosa run in families. If you inherited certain gene glitches from your parents, you will have it.

There’s one exception. Epidermolysis bullosa aquisita is the only type that’s not inherited. It happens because of a problem in your immune system.

What are the treatments for epidermolysis bullosa letalias?

If lifestyle changes and home care don't control the signs and symptoms of epidermolysis bullosa, treatments may include medications, surgery and rehabilitation. The condition often progresses despite treatment, sometimes causing serious complications and death.

Medications

Medications can help control pain and itching and treat complications such as infection in the bloodstream (sepsis). The doctor may prescribe oral antibiotics if the wounds show signs of widespread infection (fever, weakness, swollen lymph glands).

Surgery

Surgical treatment may be needed. Options sometimes used for this condition include:

  • Widening the esophagus. Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgical dilation of the esophagus can relieve this and make it easier for food to travel from the mouth to the stomach. Risks include esophageal perforation.
  • Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be implanted to deliver food directly to the stomach.
  • Grafting skin. If scarring has affected the function of the hand, the doctor may suggest a skin graft.
  • Restoring mobility. Repeated blistering and scarring can cause fusing of the fingers or toes or abnormal bends in the joints (contractures). The doctor may recommend surgery to correct these conditions, particularly if they interfere with normal motion.

Rehabilitation therapy

Working with a rehabilitation specialist (physical therapist, occupational therapist) can help ease the limitations on motion caused by scarring and contractures.

Potential future treatments

Researchers are studying better ways to treat and relieve the symptoms of epidermolysis bullosa, including:

  • Gene therapy
  • Bone marrow (stem cell) transplantation
  • Protein replacement therapies
  • Cell-based therapies

What are the risk factors for epidermolysis bullosa letalias?

Having a family history of epidermolysis bullosa is the major risk factor for developing the disorder.

Is there a cure/medications for epidermolysis bullosa letalias?

Na

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