Epidermolysis Bullosa: Symptoms, Risk Factors, and Prevention

Epidermolysis bullosa is a skin disorder that your little one needs to be aware of. 

Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that cause the skin to become extremely fragile. Any trauma or friction to the skin can cause painful blisters. This inherited disorder can cause fragility of the skin layer and can occur in newborns to adults.

What is EB will be explained in the following article along with the types and causes of this skin disorder that can happen to anyone.

Understanding Epidermolysis Bullosa

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

Epidermolysis bullosa is inherited, and usually appears in infants or young children. Some people do not develop symptoms until they are teenagers or young adults.

Epidermolysis bullosa cannot be cured, but mild symptoms may improve with age. Treatment focuses on treating the blisters and preventing new ones from forming.

Types and their respective causes 

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

The skin consists of an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane. The type of epidermolysis bullosa is determined by which layer separates and forms the blisters.

As reported on the Mayo Clinic website , the main types of epidermolysis bullosa are:

Epidermolysis Bullosa Simplex

This is the most common type. Epidermolysis bullosa simplex is caused by heat and friction. Symptoms develop on the outer layer of the skin. This type of EB primarily affects the palms of the hands and soles of the feet. The blisters heal without scarring.

Junctional Epidermolysis Bullosa

This type is more severe, with blisters beginning in infancy. Babies with this condition may have a hoarse-sounding cry due to the continued blistering and scarring of the vocal cords.

Dystrophic Epidermolysis Bullosa

This type of EB is linked to a defect in a gene that causes the skin’s adhesive protein to be missing or not working properly, so the layers of skin don’t stick together properly. This can result in thin-looking skin. Sore mucous membranes can cause constipation and difficulty eating.

Kindler Syndrome

This type of EB tends to cause blisters in several layers so it can look very different from person to person. The blisters tend to appear in infancy or early childhood. This skin disorder of EB increases sun sensitivity and causes the skin to appear thin, mottled and wrinkled.

Symptoms of Epidermolysis Bullosa

As reported on the NHS page , common symptoms in all types of EB include:

Fragile skin that blisters easily, especially on the palms of the hands and soles of the feet abrasions on hands and soles of feet thickened skin that may become scarred or change color over time Thick or shapeless nails Blisters inside the mouth and throat Scalp blisters and hair loss (scarring alopecia) Thin looking skin Small pimple-like bumps ( milia ) Dental problems, such as tooth decay Difficulty swallowing Itchy and painful skin

EB blisters usually appear during infancy. However, it is not uncommon for them to appear when toddlers first start walking or when older children begin new activities that cause more friction on the soles of their feet, according to the Mayo Clinic .

Risk Factors

The main risk factor for someone at high risk of developing epidermolysis bullosa is those who have a family history of the disorder, reported on the Mayo Clinic website .

Complications

Epidermolysis bullosa can worsen even with treatment, so it’s important to recognize the signs of complications early. 

As reported on the Mayo Clinic website , complications may include:

Infection

Blistered 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 cause shock and organ failure.

Finger Fusion and Changes in Joints

Severe forms of EB can bind the 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 it difficult to eat and can lead to malnutrition and anemia , such as low iron levels in the blood. Nutritional problems can also lead to delayed wound healing and slow growth in children.

Constipation

Difficulty passing stool may be due to painful abrasions in the anal area. It can also be caused by not consuming enough fluids or high-fiber foods, such as fruits and vegetables.

Dental Problems

Tooth decay and problems with the tissues inside the mouth are common in 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

Babies with severe junctional epidermolysis bullosa are at high risk for infection and fluid loss from extensive blistering. Blisters in the mouth and throat also make it harder to eat and breathe. Many of these babies do not survive.

Diagnosis

EB is usually diagnosed in infants and young children, as symptoms can be seen from birth. However, some milder types of EB may not be diagnosed until adulthood.

If it is suspected your child has the condition, they will be referred to a skin specialist ( dermatologist ).

The specialist will perform tests to determine the type of EB and help create a treatment plan. They may take a small sample of skin (biopsy) to send for testing.

According to the NHS , there are prenatal tests that can be done, in some cases, it is possible to test an unborn baby for EB after the 11th week of pregnancy. Prenatal tests include amniocentesis and chorionic villus sampling.

This test may be offered if you or your partner are known to be carriers of a gene that carries EB and there is a risk of having a child with a severe type of EB.

If testing confirms your child will have EB, you will be offered counselling and advice.

Epidermolysis Bullosa Treatment

Call your healthcare provider if you or your child develops blisters for no apparent reason. For infants, severe blisters can be life-threatening.

Seek immediate medical attention if you or your child:

Having trouble swallowing Having breathing problems Shows signs of infection, such as warm skin, pain or swelling, pus or odor from the wound, and fever or chills Prevention of Epidermolysis Bullosa

According to the Mayo Clinic , it is impossible to prevent epidermolysis bullosa. However, the following steps can help prevent blisters and infections.

Handle Your Child Gently

Your baby or child needs to be hugged, but do it very gently..

Be Careful with the Diaper Area

If your child wears diapers, don’t use ones that are too small and avoid cleansing wipes. 

Keep the Home Environment Cool

Try to keep your house cool and the temperature stable.

Maintain Skin Moisture

Gently apply moisturizer as needed throughout the day.

Dress Your Child in Soft Clothes

Wear soft clothing that is easy to put on and take off. Remove clothing labels to reduce scratching. Wear special soft shoes, if possible.

Prevent Scratches

Trim your child’s nails regularly to prevent scratching.

Encourage Your Child to Be Active

As your child grows, encourage activities that reduce the risk of skin injury. Swimming is a good choice. For children with mild forms of epidermolysis bullosa, they can protect their skin by wearing long pants and long sleeves for outdoor activities.

Cover Hard Surfaces

Consider lining your car seat or bathtub with foam or thick towels. 

That is some information related to EB skin disorders that canParentslearn. Hope it is useful.

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Epidermolysis bullosa

https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062#

Epidermolysis bullosa

https://www.nhs.uk/conditions/epidermolysis-bullosa/

Republished with permission from theAsianParent Indonesia