Epidermolysis Bullosa

 Epidermolysis Bullosa

Overview

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) is a rare condition that causes fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach.

Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don't develop symptoms until they're teens or young adults.

Epidermolysis bullosa has no cure, but mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones.

Symptoms

Epidermolysis bullosa symptoms include:

*Fragile skin that blisters easily, especially on the palms and feet

*Nails that are thick or unformed

*Blisters inside the mouth and throat

*Scalp blistering and hair loss (scarring alopecia)

*Skin that looks thin

*Tiny pimple-like bumps (milia)

*Dental problems, such as tooth decay

*Difficulty swallowing

*Itchy, painful skin

Usually epidermolysis bullosa blisters are noticed during infancy. But it's not uncommon for them to appear when a toddler first begins to walk or when an older child begins new activities that cause more friction on the soles of the feet.

When to see a doctor

Contact your health care provider if you or your child develops blisters for an unknown reason. For infants, severe blistering can be life-threatening.

Seek immediate medical care if you or your child:

*Has problems swallowing

*Has problems breathing

*Shows signs of infection, such as warm, painful or swollen skin, pus, or an odor from a sore, and fever or chills

Causes

Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance).

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 types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all.

The main types of epidermolysis bullosa are:

*Epidermolysis bullosa simplex. This is the most common type. It's brought on by heat and friction and develops in the outer layer of skin. It mainly affects the palms and feet. The blisters 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 protein that glues the skin layers together. If this protein is missing or doesn't function, the layers of the skin won't join properly. It can cause skin that looks thin. Diseased mucous membranes can cause constipation and make it hard to eat.

*Kindler syndrome. This type tends to cause blisters in multiple layers and so can look very different from person to person. The blisters tend to show up in infancy or early childhood. It increases sun sensitivity and causes skin to look thin, mottled and wrinkly.

Epidermolysis bullosa acquisita is distinct from these conditions, as it isn't inherited and it's rare in children.

Risk factors

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

Complications

Epidermolysis bullosa can worsen even with treatment, so it's important to spot signs of complications early. Complications may include:

*Infection. Blistering skin can become infected by bacteria.

*Bloodstream infection. Sepsis occurs when bacteria from an infection enter the bloodstream and spread throughout the body. Sepsis can spread rapidly and lead to shock and organ failure.

*Fusion of fingers and changes in the joints. Severe forms of epidermolysis bullosa can bind together fingers or toes and cause unusual bending of the joints (contractures). This can affect the function of the fingers, knees and elbows.

*Problems with nutrition. Blisters in the mouth can make eating difficult and lead to malnutrition and anemia, such as low iron levels in the blood. Problems with nutrition can also cause delayed wound healing and slowed growth in children.

*Constipation. Difficulty passing stool may be due to painful blisters in the anal area. It can also be caused by not ingesting enough liquids or high-fiber foods, such as fruits and vegetables.

*Dental problems. Tooth decay and problems with tissues inside the mouth are common with some types of epidermolysis bullosa.

*Skin cancer. Teenagers and adults with certain types of epidermolysis bullosa are at increased risk of a type of skin cancer called squamous cell carcinoma.

*Death. Infants with severe junctional epidermolysis bullosa are at high risk of infections and loss of body fluids from widespread blistering. Blisters in the mouth and throat also make it harder to eat and breathe. Many of these infants don't survive.

Diagnosis

Your health care provider may identify epidermolysis bullosa from the skin's appearance. You or your child may need tests to confirm the diagnosis. The tests may include:

*Biopsy for immunofluorescence mapping. With this technique, a small sample of affected skin or mucous membrane is removed and examined with a special microscope. It uses reflected light to identify the layers of skin involved. This test also identifies whether the proteins needed for skin growth are present and healthy.

*Genetic testing. With this test, your health care provider takes a small sample of blood and sends it to a lab for DNA analysis.

*Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.

Treatment

Treatment for epidermolysis bullosa may first include lifestyle changes and home care. If these don't control symptoms, your health care provider might suggest one or more of the following treatments:

Medications

Medications can help control pain and itching. Your health care provider may also prescribe pills to fight infection (oral antibiotics) if there are signs of widespread infection, such as fever and weakness.

Surgery

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

*Widening the esophagus. Blistering and scarring of the long, hollow tube that runs from the throat to the stomach (esophagus) may lead to narrowing of the tube. This makes it hard to eat. Making the tube wider with surgery can make it easier for food to travel to the stomach.

*Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be needed to deliver food directly to the stomach.

*Grafting skin. If scarring has affected the function of a hand, the surgeon may suggest a skin graft.

*Restoring movement. Repeated blistering and scarring can cause fusing of the fingers or toes or unusual bends in the joints (contractures). A surgeon might recommend surgery to correct these conditions if they restrict movement.

TYPE OF DOCTOR AND DEPARTMENT: Dermatology SPECIALIST CAN DIAGNOSE THIS DISEASE.