Epidermolysis Bullosa

Epidermolysis bullosa is a rare skin condition characterized by the formation of painful blisters on the skin. The patient is born with very fragile skin, and things heat, minor trauma, or friction from rubbing, scratching can result in blisters. Blisters also appear on mucous membranes so it can appear in the mouth and deep inside the throat. 

There are several variants of epidermolysis bullosa, classified according to skin layers where blistering takes place. 

Because blistering occurs at a very early age, it can lead to serious complications. In infants with severe variants of epidermolysis bullosa, more than 80% die before they reach one year of age. 

Those who survive are at high risk of having metastatic squamous cell carcinoma (SCC), an aggressive type of skin cancer that often spreads to other parts of the body.

Epidermolysis bullosa is caused by inheriting faulty genes. It is a very rare disease. Estimates show it affects 50 individuals per 1 million live births. It usually shows up at birth or early childhood. Some have variants of the condition that only shows up at adolescence or adult years. 

Currently, there is no cure for epidermolysis bullosa. Mild forms of the condition may improve with age. Treatment is focused on preventing the formation of blisters.  

Epidermolysis bullosa causes the following symptoms:

• Thin-looking skin
• Presence of tiny white bumps or pimples called milia
• Formation of fluid-filled blisters, especially on areas that sustains plenty of friction like the hands and feet
• Blisters on mucous membranes, including the upper airways, throat and esophagus
• Thickening of the skin of palms and soles of feet
• Deformed or loss of fingernails and toenails
• Blisters in the scalp, with scarring and hair loss
• Frequent dental problems like tooth decay, often due to deformed enamel
• Difficulty swallowing or dysphagia

Not all cases of epidermis bullosa have symptoms at birth or in infancy. In some cases, the blisters caused by epidermolysis bullosa first appear when the toddler begins to walk or until an older child begins doing more intense physical activities. 

You need to see a doctor if the child sustains blisters, especially if it happens for no reason. Seek immediate medical care if the child has difficulties feeding, swallowing, or have signs of infection such as warm, red and swollen skin, having pus or foul odor from wounds, and having fever and chills. 

Epidermolysis bullosa is caused by inheriting certain genes that make this protein faulty, making it prone to blisters even with very light shearing. 

To understand the epidermolysis bullosa, you need to know the basic parts of the skin. The skin is composed of the epidermis, which is the thinner outer layer, and the dermis that lies beneath. A special type of protein firmly sticks these two skin layers together. 

There are several types of epidermolysis bullosa:

• Epidermolysis bullosa simplex – the most common type, often cause blisters shortly after birth or early infancy. It causes blisters mainly at the feet and palm of the hand. It is caused by faulty protein affecting the keratin, which is plenty of the topmost layers of the epidermis. Because blisters leave the dermis mostly unharmed, mild cases of epidermolysis bullosa often do not cause scars. 

         The gene that causes epidermolysis bullosa simplex is dominant, which means that a parent with the faulty gene has 50% chance     of having a child with the condition.

• Junctional epidermolysis bullosa – is particularly severe and becomes apparent at birth. The infant may have hoarse-sounding cry caused by blistering of the vocal cords. In this condition, the faulty gene affects the protein attaching the whole dermis, so there is deeper separation and blistering. 

         The genes causing junctional epidermolysis bullosa is recessive, and so has a lesser chance of passing it to offspring. Both parents with the defective gene have 25% chance of having a child with the condition.

• Dystrophic epidermolysis bullosa – this type can cause severe or mild symptoms at birth or early childhood. It is caused by problems in collagen, a protein that also helps the layers of skin join properly. Severe dystrophic epidermolysis bullosa cause open wounds that heal poorly and very susceptible to infection. It also causes chronic scarring of the esophagus. 

        The gene that causes dystrophic epidermolysis bullosa can be dominant or recessive. 

• Kindler syndrome – this one is recessive and particularly rare type of epidermolysis bullosa. The fragility of skin and blistering is usually apparent at birth or shortly after. Kindler syndrome is a ‘mixed’ type, meaning it causes blisters across skin layers. It is characterized by causing mottling of the skin when exposed to the sun.

         Kindler syndrome usually improves as the child gets older and can disappear. 

• Epidermolysis bullosa acquisita – is not caused by faulty or inherited genes. It is caused by an immune system disorder that attacks the skin by mistake, causing the formation of blisters in hands, feet, knees, elbows, buttocks, inside of the mouth and the throat. It often strikes adults.

         Epidermolysis bullosa acquisita shares similar symptoms to another disorder called bullous pemphigoid.

Your doctor will look at your skin to diagnose epidermolysis bullosa.

Having blisters for no apparent reason must be seen by a doctor, especially if it happens to infants and children. Infected blisters need medical care right away. Signs of infection include pus, redness. 

For blisters in children or infants, you may be referred to a specialist for skin problems called a dermatologist. 

Specialized epidermolysis bullosa centers

These institutions specialize in treating patients with epidermolysis bullosa. They belong to a network called EB Clinet. These centers are staffed with doctors, nurses, and social workers, and they help patients with epidermolysis bullosa control symptoms and reduce complications. You can visit such centers to help reduce hospitalizations and improve the quality of life.

You can do certain things to prepare for the appointment:

• Make sure to include details about the symptoms
• Identify sources of friction that may cause blisters. Also include any new sources of friction, like for example when the toddler has recently started walking
• Make a list of important information such as medical history as well as vitamins, over-the-counter medications and prescriptions being taken
• It can help if you include a spouse or family member along during the appointment

It is also recommended to make a list of questions ask to the doctor. Here are some good questions:

• What are the possible causes of symptoms?
• What are the tests needed?
• What are the available treatments for the condition?
• What can I do to relieve pain and discomfort?
• How to take care of child’s needs like feeding, bathing or clothing?
• What are the complications of this condition?
• What signs and symptoms I should look out and prompt me to call you or the emergency services?
• What are the restrictions?
• Will the symptoms improve with age?
• If I want to have more children, will they be affected with the condition too?
• Where can I find other people coping with epidermolysis bullosa?
• Can you share to me materials or websites to help me understand the condition better?

During the appointment, the doctor might discuss to you the following:

• Onset of the blisters, the body parts often affected and possible triggers, and having sores or blisters where adhesive tape or bandage has been applied
• Signs and symptoms that accompany blistering
• Issues with feeding and swallowing 
• Hoarseness of voice or cry of the child
• Having family history of blistering
• Presence of other health problems

Meanwhile, you can minimize the risk of your child having blisters by doing the following:

• Lifting or touching the child very gently
• Keeping the environment consistently cool
• Dressing the child only with clothing made from soft materials
• Keeping fingernails short
• Regular moisturizing of the child’s skin with lubricants such as petroleum jelly

Make sure to call your doctor if you spot signs of infection such as pus, redness, warm skin and increasing pain. 

Treatment for epidermolysis bullosa is focused on preventing complications and relieving pain. However, the prognosis for severe epidermolysis bullosa is poor. Most severe cases continue to progress despite treatment, often leading to serious complications and death.

Working with the treatment team

Epidermolysis bullosa is often addressed using a multi-disciplinary approach. This means several different professionals will provide care to the patient, particularly in providing wound care. A team may consist the following:

• A primary care physician that oversees the treatment
• A physician focused on providing wound care
• Nurses or medical assistants that help the doctor dress wounds and provide care and education
• A physical or occupational therapist
• A nutritionist
• A social worker

In case there are other symptoms, the team may also include other specialists such as an ophthalmologist (eye doctor), a dentist, a psychologist and a geneticist.

Medications

Doctors prescribe medications to relieve itching and pain, so to reduce the tendency of scratching that can cause blisters. 

Medications are also used to address complications. Oral antibiotics may be used to address sepsis (infection in the bloodstream) and systemic infection, which causes symptoms like fever, weakness, and swollen lymph nodes. If there are difficulties swallowing, an oral corticosteroid may be prescribed to reduce pain from swallowing.

Surgery

Doctors consider surgery to correct deformities and facilitate nutrition for patients with feeding difficulties.

Here are some of the surgical procedures for epidermolysis bullosa:

• Skin grafts may be used to treat blisters caused by epidermolysis bullosa. This is an option for blisters that are taking too long to heal.
• Surgery to correct deformities such as fusing of fingers or toes, and abnormal bends of joints (contractures). The doctor may recommend surgery to correct deformities to allow normal functioning.
• Dilation of the esophagus may address narrowing caused by blistering and scarring. This will help make it easier for food to travel to the stomach. This involves placing a balloon in the esophagus and inflating it to widen the opening. The procedure requires light sedation only. 
• Surgery to place a feeding tube. This may be an option for infants and children with severe problems in swallowing. A feeding tube allows food to be delivered directly to the stomach through a pump. A feeding tube still allows the child to eat through the mouth, which is important for socializing. 

Rehabilitation therapy 

Repeated blistering and scarring caused by epidermolysis bullosa may cause contractures or fusing of the digits of hands and feet. A rehabilitation therapy may help overcome limitations caused by these deformities so the child can still do daily activities while still staying safe. 

Investigated treatments

Ask your doctor if there is a chance you can join clinical trials for new treatments for epidermolysis bullosa. There is ongoing research investigating the use of the following for treating epidermolysis bullosa:

• Cell-based therapies
• Gene therapy
• Bone marrow transplantation
• Protein replacement therapies

Because epidermolysis bullosa is caused by inheriting faulty genes, it is not possible to prevent the condition. 

However, you take steps to prevent blisters: 

• Be very gentle in touching and carrying the infant. The usual way of lifting under the arms will cause blisters. Instead, place the infant on a soft material like cotton, and supporting the buttocks and behind the neck. 
• Trim nails regularly and place mittens on the infant at bedtime. Scratching can cause wounds and introduce bacteria that can cause infection. 
• Cool temperature cause less irritation to the skin, so make sure to adjust the thermostat accordingly
• Keep the skin moist be regular application of moisturizers or petroleum jelly
• The diaper area is prone to blisters. Line diaper area with a nonstick dressing or apply a thick layer of calamine lotion (zinc oxide paste). Avoid diapers with elastic bands and do not use cleansing wipes. 
• Dress the child with soft materials and choose clothing that is easy to get on and off. You can also sew foam pads on the knees, elbows and other pressure points. You must also use special shoes to prevent blisters on the feet.
• You may need to have the child avoid rough activities like contact sports as slight skin rubbing can cause wounds. Direct the child to other activities. As an added precaution, dress the child in long pants and sleeves when doing outdoor activities.
• Don’t use adhesive tape to dress wounds. 
• Keep surfaces of the car, play area and bed smooth. Use sheepskin and other soft material on car and infant seats, and use water or air mattresses with soft sheets and blankets.
• Make sure that the diet provides adequate amounts of vitamins and minerals to help wounds heal. Taking vitamin supplements may also help. 

Lifestyle modifications are necessary in order to cope with epidermolysis bullosa.

Proper wound care and nutrition is essential for patients with epidermolysis bullosa. 

Blisters can cause serious complications, so treating and avoiding them in the first place is important. Blisters must never be left intact because they enlarge and leave open, gaping wounds.  

The doctor will teach you to prevent blisters, and to break and drain them properly. You will also be taught to use recommended products to promote healing and prevent infection.

Here are very important tips in dressing wounds:

• Wash hands before and after tending wounds or changing dressings
• Soiled dressings may stick, but do not pull them. Apply small amount of clean, warm water on the wound until the dressing becomes loose enough to be removed

Wounds and blisters can cause pain. You can do the following to help ease pain:

• Taking oral non-prescription pain medications, or applying medicated dressings
• Cooling the area with cold compresses 
• Using relaxation or distraction techniques
• Using vibrating devices
• Biofeedback

Caring for skin and dressing wounds

Proper wound care can do a lot in preventing complications. It helps the wounds heal properly and prevent infection. Here are some good tips when taking care of skin with blisters and raw open wounds:

• You need to cleanse the affected skin daily. Soak the wounds in a mild solution of salt and water (or a mild solution of vinegar or bleach with water) for five to 10 minutes. Rinse the skin afterward with lukewarm water. You can also change the dressings at this time. 
• Many procedures including changing dressings can cause significant pain. Take prescription pain medication 30 minutes before the procedure. If such pain relievers fail to work, the doctor may prescribe anti-seizure medications gabapentin and pregabalin.
• Puncture new blisters to prevent enlargement of the wound, and allow drainage so that they will heal. Using a sterile needle, puncture the blister in two spots and make sure to leave the roof of the blister intact.
• Apply creams or lotions to the wounds and cover with dressings. Applying an antibiotic ointment, petroleum jelly or a moisturizing ointment on the wound promotes better healing. Cover the treated area with a non-sticking bandage such as Mepilex or PolyMem. If you use an antibiotic ointment, make sure to rotate each type each month. Always use the appropriate dressing for wounds.
• Blistered hands and feet must be wrapped to prevent deformities and fusion of fingers and toes. You can choose to use special wraps such as Mepitel or gauze dressings like Vaseline Petrolatum Gauze Strip.  

Nutrition

Nutrition is a challenge especially for infants and children with epidermolysis bullosa. Swallowing difficulties and blisters in mouth or throat complicate the situation. Here are some suggestions to improve the child’s nutritional status:

• If the child develops blisters from bottle-feeding or breast-feeding, applying an oral soothing gel might help. You can also use a rubber-tipped syringe, medical dropper or nipples for premature infants to feed milk to the child
• Older children may be served with nutritious soft foods, which are easy to swallow. Some recommended items include pureed foods in broth or milk, vegetable soup and fruit smoothies.
• Hot foods tend to cause discomfort. Serve food lukewarm, at room temperature or cold.
• Talk to your doctor about taking supplements and vitamins 

There are several risks and complications associated with epidermolysis bullosa.

Inheriting faulty genes cause epidermolysis bullosa, so having family history is a major risk factor. 

The complications of untreated severe epidermolysis bullosa can be life threatening, especially in infants and young children. 

The blisters are open wounds that can easily get infected and lead to sepsis or introduction of infectious bacteria in the bloodstream. The blisters can cause significant loss of fluid, especially in small children, and result in dehydration. 

Some infants can have blisters in the mouth and throat area. The blisters can cause pain when swallowing so the child does not feed well, increasing the risk of malnutrition and anemia. Due to poor nutrition status, the child experiences slow growth and delayed healing of wounds. 

Epidermolysis bullosa may cause other complications. Blisters may form in the anal area, causing pain during the passing of stool that can lead to constipation. The cornea of the eyes can also be affected by inflammation that can lead to blindness. 

Certain variants of epidermolysis bullosa are known to increase the risk of having metastatic squamous cell carcinoma at a later age. Squamous cell carcinoma is a type of skin cancer that can spread to other organs if not addressed promptly.