About epidermolysis bullosa hereditaria

What is epidermolysis bullosa hereditaria?

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 symptoms for epidermolysis bullosa hereditaria?

Blisters symptom was found in the epidermolysis bullosa hereditaria condition

Epidermolysis bullosa Blisters may not appear until a toddler first begins to walk or until an older child begins new physical activities that trigger more intense friction on the feet.

What are the causes for epidermolysis bullosa hereditaria?

Epidermolysis bullosa is usually inherited. 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.

The skin is made up of an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane. The various types of epidermolysis bullosa are largely defined by which layer the blisters form in.

The main types of epidermolysis bullosa are:

  • Epidermolysis bullosa simplex. This is the most common form. It develops in the outer layer of skin and mainly affects the palms and the feet. The blisters usually heal without scarring.
  • Junctional epidermolysis bullosa. This type may be severe, with blisters beginning in infancy. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.
  • Dystrophic epidermolysis bullosa. This type is related to a flaw in the gene that helps produce a type of collagen that provides strength to the pig-skinlike dermis layer of the skin. If this substance is missing or doesn't function, the layers of the skin won't join properly.

What are the treatments for epidermolysis bullosa hereditaria?

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 hereditaria?

Essential thrombocythemia is more common in people over age 60, though younger people can develop it too. It's also more common in women.

Is there a cure/medications for epidermolysis bullosa hereditaria?

Na

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