Epidermolysis Bullosa Simplex
What is epidermolysis bullosa simplex?
Epidermolysis bullosa simplex is a blister causing rare inherited disorder. Commonly the blisters are formed only in the soles and palms. In some cases mouth is also affected, so during the warm weather, it is a very troublesome disease.
EB simplex Dowling-Meara
EB simplex Dowling-Meara is a severe form of this skin disease. The persons, who are affected with this skin problem, get more widespread blisters throughout the year in the same proportion. This type of skin disease is different from the junctional and dystrophic forms of EB. However, in case you are already suffering from EB simplex, you will not get other type of EB.
Causes of epidermolysis bullosa simplex
Layers of cells form the top layers of skin, which is known as epidermis. Each of the cells has a protein based internal skeleton, which is known as keratins. Keratins give the shape and strength to them. A person becomes affected with the EB simplex when any of these proteins become weak.
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As the cells become weak, some minor abnormalities are caused in the gene, named as ‘mutation’, which is responsible for making of that protein. When EB simplex takes place, different types of mutations take place in EB simplex.
Does the epidermolysis bullosa simplex run through heredity?
Yes, it is dominantly a hereditary disease. This means any of the parents must be the patient of epidermolysis bullosa simplex, but it is also possible that the condition of EB simplex may also appear in a person for the first time, without any hereditary connection. The patients with EB simplex usually pass (50 0ut 0f 100 cases) the blistering tendency to their next generation. Both men and women are not equally affected by EB simplex, which is not an infection, nor it is contagious, nor is it caused due to any allergy.
Epidermolysis bullosa simplex and its symptoms
Epidermolysis bullosa simplex primarily symptomizes as blisters with pain. The disease can very much affect ADL (activities of daily living), whether work or school.
The occurrence of blisters is seen in the early childhood of an infantThe most affected areas are elasticated areas of nappy, where frictions are very common. Some of the babies get this problem in their knees and hands, when they are at their crawling stage. These affected areas turn to blisters with pains, after walking/crawling a short distance. The infants face lots of troubles during warm weather, during winter, these blisters get subsided. A few children develop these blisters during writing with pens and pencils. The blisters can appear in those children who wear close fitting clothes or accessories. Some may also experience blisters by drinking warm drink.
EB simplex’s Dowling-Meara variant is seen among the babies in their early age, just within the short period of their births. The problem can appear in any part of the baby’s body. The problem gets temporarily disappeared for some of the kids, who get feverish illness. The features of EB simplex are thickened skin on the soles and the palms, in some cases it is accompanied by the sweats at the affected sites.
The peculiarity of this EB simplex is the problem stays throughout the life for the patient, except getting reduced during adult life. After childhood, the problem gets dramatically reduced with every case.
How does this Dowling-Meara EB simplex look like?
This typical EB simplex skin disease look just as the blisters, caused due to the skin-frictions. But they vary in sizes. They are mostly large in size and many in numbers. When they heal, they do not leave any scar mark. But in the case of Dowling-Meara variant, residual pigmentations in the limbs and body are found among the patients.
Diagnosis of epidermolysis bullosa simplex
1) Diagnosis of the epidermolysis bullosa simplex is fully dependant on the individual case history of the patient.
2) The matter becomes more attentive if any other member of the family is also affected with the same disease.
3) Distributions of blisters also help in diagnosing the problem.
4) Skin culture may also be needed in some case when the dermatologists, due to some uncertainty, want to rightly diagnose the problem. In this case, the dermatologists will take a small sample of the skin for detail microscopic examination.
5) In some cases, blood tests are done for the purpose of mutations of the genes
How can epidermolysis bullosa simplex be cured?
Although, understanding of EB simplex has become the matter for better understanding during last 2 decades, but no cure has been found till now. Many laboratories are exploring strategies to come up with some effective treatments.
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