Epidermolysis Bullosa, known as EB, is the name of a rare group of genetic
skin disorders causing blistering and shearing of the skin from even the
gentlest friction and sometimes spontaneously.
There are three major types of EB; Simplex, Dystrophic and Junctional.
These vary from relatively mild to incapacitating, crippling, and
sometimes fatal disorders. Within these there are over twenty different
sub types of EB, each with their own characteristic symptoms.
All forms of EB are genetic in origin and the genes responsible for
most of the sub-types of the condition are now known. Some still await
identification.
The genetic defects result in the skin cells collapsing or skin layers
not adhering properly to each other, causing areas of structural weakness.
This fragile skin is particularly vulnerable to damage from friction,
causing the continual blistering that is the characteristic feature of the
condition.
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The skin is a composite structure. The outer layer is called the
'epidermis'; the inner one the 'dermis'. 'Bullosa' is simply the name for
a blister, whilst 'dystrophic' means mutilating. 'Lysis' means breakdown.
Hence epidermolysis means breakdown of the epidermis. This is one group;
however, there are other types which are less mutilating.
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The understanding of the causes of EB has grown greatly over recent
years. All forms of EB are genetic in origin and the genes responsible for
several different sub-types of the condition are now known. Others still
await identification. The genetic defects result in the skin layers not
adhering properly to each other, causing areas of structural weakness.
This fragile skin is particularly vulnerable to damage from mild friction,
causing the blisters which are the characteristic feature of the
condition. Researchers are very optimistic about the possibility of
developing treatments as knowledge of EB increases. dEBra is
committed to ensuring that this optimism becomes a reality.
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In the simple types of the disease, blisters are confined to the skin
and very occasionally affect the mouth. These are often numerous but heal
without permanently damaging the skin. Nevertheless, it causes discomfort
and pain throughout the sufferer's life, and a great curtailment of normal
social activities, including schooling.
In addition, the real or imagined reaction of the public to the
appearance of the skin may lead to withdrawal from social activities, and
to feelings of isolation, depression and defensive shyness.
The more serious types of the disease occur at a different, deeper
layer of the skin levels; therefore, the damage is more serious. The
blisters continue to enlarge until opened, destroying the outer skin as
they do so. They heal with scarring, faintly resembling burns, and in time
the appearance of all the skin becomes changed.
The scarring may cause severe deformity in parts of the body, most
notably the hands. Here it eventually leads to fusion of the fingers and
thumb, rendering the hand useless. Plastic surgery can be performed, but
it is both difficult and painful. Despite advances in the making of
suitable hand splints, the effect is not permanent and the child may
require several operations on the hands and, to a lesser extent, on the
toes.
The most extreme type of the disease can be fatal. Infants can be born
with areas of the skin completely missing and the blisters do not heal.
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Yes, it commonly affects the mouth, as well as other linings of the
body.
When the mouth is affected there is considerable pain and discomfort
when eating, even in the milder form. This is similar to the pain and
discomfort caused by mouth ulcers. In severe forms there are grave
problems with eating, and the scarring left after the blisters have healed
may cause the sufferer to have difficulty opening their mouth, making
eating and speaking even more of an effort.
A similar effect can occur in the gullet, leaving a sufferer unable to
eat properly for several days whilst the blisters heal. Many children need
to have all their food liquidized. It is possible for the gullet to become
so narrowed by frequent blistering that the food can no longer pass down
it. An operation is then necessary to re-open it, and this may have to be
repeated at intervals over the years. This is the most distressing aspect
of the disease; problems of undernourishment may occur and further
aggravate the condition.
Other linings of the body may be affected, and also conjunctiva of the
eye, causing temporary blindness. The scars remaining after the healing of
each blister may in time cause permanent loss of sight.
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Not at all. Despite the considerable disfigurement the disease can
cause, the mental health of all the sufferers is normal. Indeed the
above-average intelligence of many of the sufferers means that they find
their physical limitations very hard to come to terms with. They are more
than ever aware of the restrictions placed on them and many of their hopes
and ambitions cannot be fulfilled.
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The degree of pain varies considerably according to the severity of the
individual affliction. Most of us know how painful a single blister on the
heel can be - can any one of us imagine what it must be like to have
blisters every day of our lives caused simply by the normal friction of
clothes? Obviously, this places major restrictions on daily life and
activities.
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Definitely not. However, the blisters themselves can easily become
infected by germs. This causes further pain and delays healing.
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Yes, it is of a hereditary nature. Broadly speaking, the milder
categories are passed on from one generation to the next, with
approximately one-half of a sufferer's children being affected. This is
known as dominant inheritance.
More severe types are transmitted in an indirect form known as
recessive inheritance; that is, both parents carry the gene for the
disorder but are not themselves affected by it. An average of one in four
of their children will be born with the disease but, as nature is
capricious, some families have the terrible misfortune to have most, or
even all, of their children affected.
Approximately two of the four children will carry the gene but, like
their parents, will not be affected by it. The disease will re-surface if
they marry another such carrier. The engaged couple are usually totally
unaware that they carry the gene.
Fresh mutations of the gene take place from time to time. This is rare
- but it could happen.
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EB is currently an incurable condition. There is no
effective treatment for EB.
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