Epidermolysis Bullosa

Epidermolysis bullosa 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.

Causes of Epidermolysis Bullosa #

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).

Types of Epidermolysis Bullosa #

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.

Symptoms of Epidermolysis Bullosa #

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

Diagnosis of Epidermolysis Bullosa #

• Clinical diagnosis of the type of EB based on presentation in the neonatal period should be avoided as all types of EB may look alike in this age group.

• When EB is suspected, a skin biopsy should be obtained and sent to an appropriate laboratory to confirm the diagnosis with transmission electron microscopy (TEM) and/or immunofluorescent antibody/antigen mapping.

• Molecular genetic testing for mutations in most of the genes known to be associated with the various types of EB is clinically available.

Treatment of Epidermolysis Bullosa #

By definition, inherited EB is a genetically transmitted disorder characterized by marked fragility of the skin. Any trauma, no matter how minimal it may seem, is likely to cause the skin of an EB child or adult to tear or blister. The following are recommended ways to avoid or minimize this problem:

• Reducing friction: Extreme care should be employed in handling the skin of any patient with EB.

• Non-adhesive bandages and dressings: Adhesive or semi-adhesive dressings, bandages, Band-aids, or tape should not be used on the surface of the skin. Instead, wounds should be covered with an appropriate non-adhesive dressing and then further wrapped loosely with rolled gauze. This can be secured by using a tubular dressing retainer.

• Keeping the skin cool: Nothing hot should ever be applied to the skin of a patient with EB. In particular, bath water should be no warmer than body temperature. Patients should avoid prolonged exposure to ambient heat and humidity. If possible, air conditioned environments should be sought whenever possible.

• Managing blisters: Because blisters in EB are not self-limiting, and can fill with fluid and grow quite large, they need to be drained.

• Clothing: In younger children, diapers may require additional padding at the legs and waist. Whenever possible, loose-fitting garments should be worn. If blisters develop from the seams of clothing, garments may be worn inside-out and tags, cuffs and necklines may be removed. Loosely-fitted, padded shoes are generally better tolerated.

• Nutritional deficiencies: Many children with EB become anemic due to a chronic loss of blood through wounds, poor nutritional intake, poor absorption of iron and bone marrow suppression from chronic inflammation. It is important to work with a nutritionist experienced in the care of special needs patients. Treatment for iron deficiency anemia is often necessary.

• Monitoring for cancer: Squamous cell carcinoma is the leading cause of death in EB usually occurring after the 2nd decade of life. Patients with RDEB and JEB are at increased risk of developing skin cancers during their lifetimes. It is very important that all EB patients have at least yearly examination of all skin areas.