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Epidermolysis Bullosa

Definition


Disease: Epidermolysis Bullosa Epidermolysis Bullosa
Category: Dermatological diseases

Disease Definition:

Epidermolysis bullosa is a group of skin conditions. Its main characteristic is blistering in response to minor injury, heat or friction from scratching or rubbing. Epidermolysis bullosa has three main types with numerous subtypes, most of which are inherited.

 

Usually, epidermolysis bullosa affects infants and young children. However, some people with mild forms of this condition don’t develop any signs or symptoms until adolescence or early adulthood. Some infants are born with blisters. Although mild forms of epidermolysis bullosa could improve with age, however, severe forms could cause some serious complications. This condition could be fatal.

 

Treatment for this condition depends on its severity, and usually focuses on preventing pain, infection and other complications. However, this condition has no cure.
 

Work Group:


Symptoms, Causes

Symptoms:

The eruption of fluid-filled blisters called bullae on the skin, which most commonly exist on the hands and feet in response to friction, is the primary indication of epidermolysis bullosa. Depending on the type of epidermolysis bullosa, blisters could develop in various areas and in mild cases, blisters could heal without scarring.

 

Blistering could be present at birth, appear during infancy or occur during adolescence or early adulthood, depending on the type of the condition. Its three main types include:

 

Epidermolysis bullosa simplex:

This type is the most common and least severe. It usually begins at birth or in early infancy, and its most common and mildest subtype is the Weber-Cockayne type, which involves blistering of the palms and soles.

 

Junctional epidermolysis bullosa:

This type is usually severe and begins at birth.

 

Dystrophic epidermolysis bullosa:

This type usually begins either at birth or in early childhood.

 

Some of the signs and symptoms of epidermolysis bullosa might include:

 

  • Excessive sweating
  • Thin appearing skin (atrophic scarring)
  • Tiny white skin bumps or pimples called milia
  • Dysphagia, which means difficulty swallowing
  • Loss or deformity of fingernails and toenails
  • Scalp blistering, scarring and hair loss (scarring alopecia)
  • Skin thickening on the palms and soles of the feet (hyperkeratosis)
  • Blistering of the skin, the severity of which will depend on the type
  • Dental abnormalities, including tooth decay from poorly formed tooth enamel
  • Internal blistering, including on the throat, esophagus, upper airway, intestines, urinary tract and stomach.

 

A fourth type has been proposed, called hemidesmosomal epidermolysis bullosa. One of its forms is associated with muscular dystrophy, which is an inherited disease, involving progressive weakening of muscles.

 

Epidermolysis bullosa acquisita is yet another rare type, which is not inherited. In this type, blistering occurs as the result of the immune system mistakenly attacking healthy tissue. This type is similar to bullous pemphigoid, which could also be related to an immune system disorder. This form of the condition has been associated with Crohn’s disease, which is an inflammatory bowel disease.
 

Causes:

The skin consists of epidermis, which is the outer layer, and dermis, the underlying layer. The basement membrane zone is the area where these two layers meet. The type of epidermolysis bullosa determines where blisters develop.

 

This condition is mostly inherited. More than ten genes have been identified that are involved with skin formation. If these genes are defective, they could cause a type of epidermolysis bullosa. Epidermolysis bullosa could also develop as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell.

 

EPIDERMOLYSIS BULLOSA SIMPLEX:

This is the most common and generally mildest form, in which the faulty genes are those involved in the production of keratin, a fibrous protein in the top layer of skin. Blisters occur because this condition causes the skin to split in the epidermis.
When someone has epidermolysis bullosa simplex, it is likely that they inherited a single copy of the defective gene from one of their parents; this is called an autosomal dominant inheritance pattern. There’s a 50% chance that the child will have this defect in case the parent has a single faulty gene.

 

JUNCTIONAL EPIDERMOLYSIS BULLOSA:

This type is usually severe, in which the faulty genes are involved in the formation of thread-like fibers (hemidesmosomes) that attach the epidermis to the basement membrane. Tissue separation and blistering in the basement membrane zone is caused by this gene defect. This type of epidermolysis bullosa occurs when both parents carry and pass on the defective gene, despite the fact that neither of the parents may have the disorder (silent mutation); this is called the autosomal recessive inheritance pattern.There’s a 25% chance that the child will have the defect and develop the disorder in case both both of the parents have the faulty gene.

 

DYSTROPHIC EPIDERMOLYSIS BULLOSA:

In this type, the faulty genes are involved in the production of a type of collagen, which is a protein in the fibers that attach the epidermis to the dermis. The result of this is that the fibers are either missing of nonfunctional. This type could be either dominant or recessive, and its subtypes range from mild to severe.
 

Complications

Complications:

When epidermolysis bullosa is severe, it could have some serious complications and be fatal.
Some of its possible complications are:

 

Sepsis:

When bacteria from a massive infection enter the bloodstream and spread throughout the body, sepsis occurs, which is a rapidly progressing and life-threatening condition that can cause organ failure and shock.

 

Anemia:

Iron deficiency anemia could be caused due to continuous loss of blood from open sores and inability to take in adequate nutrition.

 

Secondary skin infection:

Someone's chances of getting sepsis increases due to blistering that leaves the skin vulnerable to bacterial infection, especially staph infection.

 

Deformities:

Fusion of fingers or toes and abnormal bending of joints (contractures), such as fingers, knees and elbows could be caused by some severe forms of epidermolysis bullosa.

 

Eye disorders:

Erosion of the transparent, dome-shaped surface of the eyes (cornea) and sometimes blindness could be caused by inflammation in the mucous membrane (conjunctiva) that lines the eyelids and part of the eyeballs.

 

Malnutrition:

Eating may be difficult in case a person has a form of epidermolysis bullosa that causes blistering of the mouth and other mucous membranes. Normal growth could be inhibited due to the resulting malnutrition.

 

Skin cancer:

Adolescents and adults with certain types of epidermolysis bullosa are at high risk of developing squamous cell carcinoma, a type of skin cancer.

 

Death:

In case infants have a lethal form of junctional epidermolysis bullosa, they are at high risk of infections and loss of body fluids from widespread blistering. Because of blistering of internal organs that could hamper their ability to get enough nourishment and sometimes to breathe, their survival could be threatened. Many of these infants die in childhood. However, milder forms of epidermolysis bullosa might not affect life expectancy.
 

Treatments:

Easing discomfort from blistering and preventing complications is what treatment for epidermolysis bullosa focuses on.

 

SKIN CARE:

The blisters that develop on the skin might be large, and if they break, they could be susceptible to infection and fluid loss. A person may be recommended puncturing the blisters with a sterile needle. They should keep the roof of the blister intact to allow it to drain and at the same time to protect the underlying skin. Someone may also be recommended applying antibiotic ointment or petroleum jelly or some other moisturizing substance and then applying a non-sticking bandage. Someone with this condition may be recommended skin grafts, using either their own skin from an unaffected area or manufactured skin for wounds that don’t heal over time. To help spur healing, the wound may be covered with skin.

 

SURGERY:

Repeated blistering and scarring may cause fusing of the toes or fingers or abnormal bends in the joints (contractures), as well as other deformities. In order to correct these deformities, the patient may be recommended surgery, especially if the condition interferes with normal motion. Eating may be difficult due to esophageal narrowing from blistering and scarring of the esophagus. In this case, the person may be recommended surgery in order to widen or dilate the esophagus. During this procedure light sedation is used, while a small balloon is positioned in the esophagus and inflated, causing the area to dilate.

 

A gastrostomy tube could be inflated to deliver food to the stomach in case feeding is impossible. This could be done overnight, using a pump.

 

PHYSICAL THERAPY:

In order to ease the limitations on motion caused by contracture and scarring, the patient could work with a physical therapist.
 

Prognosis:

Not available

Expert's opinion

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