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Samiye

Epidermolysis Bullosa



 

Your helpful guide!

 

What is Epidermolysis Bullosa(EB)?


Epidermolysis Bullosa (EB) is a group of rare diseases that causes the skin blister easily. The fragile skin is usually noticeable at birth. A hug, loving rub on the back, changing the diaper, basically a slight friction caused on the skin results in blisters and painful open wounds.


Some people develop blisters in the moist tissue that lines the mouth, throat, stomach intestines, rectum, and many other parts of the body.

In these specified areas, the friction is caused by swallowing food or having a bowel movement can lead to painful blisters.


Effects of EB


The effects that are caused by EB differ. Some can have a mild disease that only requires taking some specific precautions to prevent the injuries and open wounds.

And some types of EB can be really severe which are likely to cause a lifelong disability that needs constant medical care.



Types of Epidermolysis Bullosa:


  • Epidermolysis Bullosa Simplex(EBS):


This one is the most common type of EB. İt's the mildest form, the blisters and wounds usually occur only on the hands and feet of a newborn baby.

In continuous years, the skin may stop blistering, leaving the person with thickened, hard skin on the palms and soles.


In some cases, EBS can also be more severe. Blistering may be widespread and can occur anywhere on the skin and inside of the mouth. The nails can be either rough and thick or missing.

In this case, the blistering of the skin is more likely to be serious at birth, which lessens in severity with age.

As the blisters start to clear, the skin tends to heal without scarring.










Dystrophic Epidermolysis Bullosa(DEB):


If a person has the mild form of the DEB, the blisters tend to develop only on the hands, feet, knees and elbow parts. Blistering may also be widespread, which causes the severe form of DEB.


A baby who is born with a severe DEB, can have widespread blistering and many areas of missing skin. Blisters can also develop inside the mouth and esophagus, which makes swallowing extremely painful.

When this happens, due to the pain the child will probably be needing a feeding tube to get nutritions to the body.


After healing...


When the blisters heal, scars tend to form.

As the skin on fingers and toes repeatedly blisters and gets scarred, the fingers or toes can join and stick to each other which is really painful, and causes disabilities to people to use their fingers, and when the toes join together, it becomes difficult to walk.


If a child's finger or toes repeatedly blisters and scars, precautions can be taken to prevent the joining of fingers and toes.

People who suffer from severe DEB can also develop skin cancers.



  • Junctional Epidermolysis Bullosa(JEB):


Whe JEB is mild, blisters usually develop only on the newborn's hands, elbows, knees and feet.

The blistering of the skin tends to lessen by 2 or 3 months of age.


The JEB can also occur severely, with blistering developing on large areas of the body or the digestive tract. As the blisters start healing, scars appear.

This can cause the toes or fingers to join together, but taking precautions can reduce the risk of the joining happening. Infections, hair loss, and breathing problems can occur too.

When the JEB is excessively severe, a child often dies during the first year of their life.



  • Kindler Syndrome:


The kindler syndrome is an extremely rare type of EB.

There are approximately only 100 cases of Kindler Syndrome that have been reported since 1954.


At birth, the skin blisters easily and is extremely sensitive to sunlight.

As the child grows up, the blistering and the sensitivity of the skin to the sun will likely lessen.

As these lessen, a skin condition which is called “Poikiloderma” appears.

It causes dark colored patches on the skin.

At first, the dark patches only appear when it’s exposed to sunlight.

After puberty, they appear everywhere on the skin.

Due to this condition, the skin becomes extremely dry and patchy so that the hands and the feet look like it’s an elderly person’s skin.



Kindler














Poikiloderma












How Is Epidermolysis Bullosa(EB) Treated?


If lifestyle changes and home care can’t control the signs and symptoms of epidermolysis bullosa, treatments may include medications, surgery and rehabilitation. The condition often progresses despite treatment, sometimes causing serious complications and death.

Medications

Medications can help to reduce the pain, itching and treat complications like infections in the bloodstream.

The doctors may prescribe oral medications and antibiotics if the wounds are showing signs of widespread infections such as; weakness, swollen lymph glands, fever..


Surgery


Surgical treatments may be needed in some severe cases of EB.


Some of them include:


  • Placing a feeding tube:

To help with nutrition and gaining weight, a feeding tube (a gastronomy tube) may be implanted to carry the food directly to the stomach.


  • Skin Grafting:

If the scarring has affected the function of the hand or feet, the doctors may suggest skin grafting.


  • Widening the esophagus:

Blistering and scarring of the esophagus can lead to serious esophagus narrowing, which makes eating difficult for the person.

With surgery, the esophagus can be dilated and will relieve the patients’ pain.

Additionally, the dilation of the esophagus will make it easier to swallow and helps with the food to travel from mouth to the stomach.

Risks of this surgery include esophageal perforation which means the esophagus can be punctured.


  • Restoring Mobility:

Repeating blistering and scarring skin can cause fusing of the finger, toes and abnormal bends in the joints.

For this condition, the doctors may recommend surgery to fix these conditions, specifically if they are restricting basic motions.


 

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