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Epidermolysis Bullosa
There are three major types of EB, but the general symptoms in all forms of EB are skin fragility and blistering. In some types the internal linings of the body can be affected, as well as the cornea of the eye. Healing with scarring seen in some forms of EB can also lead to worsening disability.
Within each type there are sub-groups with a huge variety of symptoms and prognosis. One form of EB cannot turn into another; as they are caused by different genetic mutations.
EB Simplex (EBS)
This is the most common form of EB affecting approximately 65% of people with EB in the UK. Most commonly, skin fragility is confined to the hands and feet, however in another form of EBS, blistering can occur in any area where the skin is subject to friction, such as under waistbands, bra- straps etc.
Sometimes babies with EBS can be born with extensive skin loss, however improvement almost always occurs with age.
Most people with EBS find their blistering is made worse by heat.
In all but very rare cases EBS is inherited dominantly i.e. an affected parent passes it to a child.
Junctional EB (JEB)
Approximately 10% of all people with EB have Junctional EB.
In the less severe form there are problems with skin ulcers and dental problems, however life expectancy is relatively normal.
In the severe form, generally the outlook is bleak. Skin loss is extensive and malnutrition is a major problem. Babies with this condition experience anaemia and difficulties with breathing. Death within the first two years of life is usually inevitable.
JEB is always inherited recessively i.e. two affected genes are passed from healthy parents, one from each parent.
Dystrophic EB (DEB)
Approximately 25% of all people with EB have this form of the condition. DEB can be inherited either recessively or dominantly.
As a general rule the recessive form is the more severe.
It is important to recognise however that there is a very wide variation in severity in the whole dystrophic group.
In the severe form healing is complicated by scarring; leading most notably to the hands being encased in a 'mitten' of scar tissue. There may be fragility of the digestive tract leading to poor food intake. There may be difficulty eating due to blistering in the mouth and extensive dental problems. Blistering of the cornea can also occur. Skin cancers are a later complication of severe dystrophic EB.
In the dominant form, effects are variable, however many people have limited difficulties and can lead an almost normal life.
Epidermolysis bullosa (EB) is a genetic disorder. It is caused by a mutation (change in the DNA) in the genes that dictate the way our bodies produce skin.
All human beings carry two genes for each of our characteristics e.g. eye colour, height, and skin colour, one coming from each parent.
There are two ways in which EB can be inherited:
gene where two mutated genes are inherited from two healthy, unaffected parents, or
as a dominant condition where an affected parent passes a mutant gene to the child.
TREATMENT
At present, along with all other genetic disorders there is no cure for EB, however research continues into the possibilities for gene therapy.
Treatment, particularly for the severer forms of EB has developed in recent years with consequent improvements in the quality of life for many people with EB.
Treatment includes the application of appropriate non-adherent dressings to aid wound healing and prevent further damage and infections.
For the severer forms of EB a multi-disciplinary approach from a specialist team is essential to meet the individuals complex care needs.
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