What is Epidermolysis Bullosa?

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Epidermolysis bullosa is a rare genetic disorder which causes blistering of the tissues of the skin in response to a minor injury. This is commonly observed in children and can be minor or much more severe which is very different case by case. The children who have this disorder are often called by several different names such as butterfly children (because their skin is as fragile as a butterfly’s wings) and Cotton Wool Babies. The condition of the children can get progressively worse as they increasingly damage their body tissue over time. There is no real way to prevent the damage from occurring as it is very aggressive in most of the children who exhibit signs of the disease.

Who Can Get Epidermolysis Bullosa?

Since epidermolysis bullosa is a genetic disorder, it is only possible to get it by having the genes available to produce the disorder. It is not a communicable disease in the sense of it spreading through touching of an individual; it can be passed on genetically. The problem with those who have the disorder having children is that it is nearly impossible for them to copulate and have children if they reach past puberty. Usually the recessive traits for epidermolysis bullosa are passed on by the parents and the child is born with the affliction. Those who do make it to a longer lifespan can possibly attempt copulation but their disorder could possibly mean the inability to copulate as the genitals would take severe damage and blister causing painful and possibly deadly damages.

The Symptoms of Epidermolysis Bullosa

Symptoms for epidermolysis bullosa are very well documented because those who are affected with the disorder will usually be studied to try and help find a cure for the disorder. The following are well known symptoms of epidermolysis bullosa:

Respitory Difficulties – A hoarse cry, cough and various other breathing difficulties are possible because of epidermolysis bullosa. This is simply because the lung tissue may also be subject to the blistering effect making it very difficult to absorb the right amount of oxygen with breathing whilst causing discomfort and the inability to breathe correctly.

Alopecia – Hair loss is a very typical affliction with epidermolysis bullosa as the blistering can cause the hair loss by displacing the hair follicles and much more. It is very important to look into the various different options for reducing hair loss in these children such as prevention of scratching of the scalp and wearing a soft garment on the scalp to reduce trivial trauma to the skin.

Eyes and Nose Symptoms – Blistering around the eyes and nose is very common as they are the areas of the body that are touched most often by children. It is possible for the blisters to grow very large and cover up nostril openings and eyes if the child is not careful with their affliction. This can have a severe impairment effect on children which may cause them to do even more harm to themselves if they run into walls or other obstacles that cause even more blistering.

Mouth and Throat Symptoms – Blistering around the mouth and throat are common as the children often scratch and put items in these areas just like any other children would. This can cause feeding problems and make it difficult to breathe as well. The worst case scenario with mouth and throat symptoms of epidermolysis bullosa is the fact that their throats may swell up so badly that they are unable to breathe and die.

Minor trauma or Temperature Change Blisters – These can be some of the most dangerous types of blisters as they can occur anywhere and at any time with a simple bump or rise or drop in temperature. This can be very damaging to the skin and other tissues in the tissues and can make it very difficult for the children to move without causing pain and even more damage.

Blistering Present at Birth – Many of the children that have epidermolysis bullosa will have several blisters that will be present at birth. The effect that this has can be traumatizing for parents, especially in third world countries that do not understand the condition as well and do not have the same treatments available in other locations.

Dental Abnormalities – Tooth decay and other dental abnormalities are common as the gums and nerves could have damage in them that can cause the excursion of teeth and rotting of the teeth at the base. This is especially common when children with epidermolysis bullosa begin teething as the gums will usually inflame very severely and possibly rot as well.

Milia – Milia is common in those who have epidermolysis bullosa as they are small pockets of dead skin under the dermal layers. This can usually go away without intervention but they are very highly sought out targets for children with epidermolysis bullosa to scratch causing worse blistering. This can be dangerous, especially because the milia often occur on the face and can be very damaging to the eyes, nose and mouth if the child scratches these locations.

Nail Loss or Deformed Nails – The loss of nails or the deformation of the nails is often caused by the stubbing of fingers or toes. The pain will usually cause the children to remove their nails or pick at them until they fall off because of the excessive blistering that may occur at the site.

Complications and Causes of Epidermolysis Bullosa

There are four main causes of epidermolysis bullosa and those are:
Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Simplex
Hemidesmosomal Epidermolysis Bullosa
Junctional Epidermolysis Bullosa

They each have a varying degree of severity and some can even be deadly with the blistering of organs with the simplest of trauma. Death is not uncommon with those who have severe cases of the epidermolysis bullosa and many see the death as occurring too soon. There are not many treatments for epidermolysis bullosa, but there are promising leads on possible cures.

Treatments for Epidermolysis Bullosa

General hygiene and special care of the body of those who have epidermolysis bullosa is paramount to ensure that the disease does not harm them as much. It is very important for those with epidermolysis bullosa to learn to use the best and least damaging methods of keeping themselves clean as damages from not being clean can progress rapidly to a much dangerous level, especially when it can foster bacterial infections.
One of the experimental treatments which may be able to help with the condition is a Bone Marrow Transplant. This procedure will require the recipient to have compatible bone marrow from a family member donor which could help prevent the disorder from getting worse and possibly reverse the effects of the disease.

Prognosis and Outlook for Epidermolysis Bullosa Patients

Without treatment, these patients are most often going to die from complications caused by epidermolysis bullosa. With treatment, there is a slight chance that the condition could be managed to prolong life, but the treatments are only newly discovered and will take some time to see if they work completely. It is important for those with the disorder to seek treatment when possible to increase the chances of surviving past their teenage years.

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