Epidermolysis bullosa – the butterfly diseaseEpidermolysis bullosa (EB) is a hereditary disease – about 4.500 to 5.000 cases are known in Germany.
Since it is a rare disease, only one out of 20.000 children affected by epidermolysis bullosa from birth. (Source: arzteblatt of 6. November 2017)
– The symptoms – what are the causes? – Video interview on epidermolysis bullosa – Treatment – Wound care – Bleeding – Less pain during dressing changes – Distraction strategies during dressing changes – Learn more – Pain relief – Help for caregivers
Epidermolysis bullosa is also known as "butterfly disease".
The name is significant, because the skin of the affected person is very sensitive. As sensitive as butterfly wings. A translation of the technical term epidermolysis bullosa gives even clearer information about the signs of the disease: literally, it means "blistering detachment of the skin". Blisters as well as open wounds are caused by friction and prere, but also already by slight impacts. Affected individuals usually present with symptoms from birth. The degree of severity can vary greatly.
Epidermolysis bullosa has several subtypes – EBS, EBJ, EBD, KS. These are different forms of the disease. They differ depending on the skin layer affected. Patients experience – depending on the subtype – a mild, moderate or severe course of the disease. The degree to which they are affected by their symptoms therefore varies greatly.
Epidermolysis bullosa simplex (EBS)Name for the form of the disease in which the blisters are formed within the epidermis. The blisters appear superficially. Heal without scars. Epidermolysis bullosa junctionalis (EBJ)In this EB form, the blisters form between the epidermis and dermis. In addition to blistering, those affected have to deal with additional problems, such as.B. Blistering of mucous membranes, superficial scarring and hair loss. Epidermolysis bullosa dystrophica (EBD): In this form of the disease, the blisters occur within the dermis (leather skin) and therefore heal with scarring. Those affected show additional symptoms, such as blistering of the mucous membranes, narrowing of the esophagus and adhesions on the hands and feet. Kindler syndrome (KS)Stands as an independent disease next to the other EB forms. In this form, the blisters develop in different layers of the skin. The blistering is accompanied by pigmentary changes. accompanied by sensitivity to light.
In a mild course, blistering occurs on individual parts of the body. However, these blisters heal quickly. If the disease is severe, even mucous membranes and internal organs can be affected. Above all, blisters and open wounds appear all over the body and are difficult to heal.
EB is an incurable skin disease caused by a genetic defect. It greatly affects the lives of both affected individuals and their families.
What are the causes?
Epidermolysis bullosa is caused by changes in single genes.
The severity of the disease depends on two things: the gene that is affected and the position of the mutation. There are certain proteins that anchor the epidermis and dermis together. They change when the genes also change – or they are not formed at all. The result of these changes are blisters that appear during mechanical stress. The inheritance of EB is autosomal dominant and autosomal recessive. Autosomal means that girls and boys have the same risk of developing the disease, since the altered genes in EB are not located on the sex-determining chromosomes.
Video interview about Epidermolysis bullosa
Currently, only the symptoms of epidermolysis bullosa can be treated, as the disease is not yet curable. In the case of butterfly disease, the wound care is formed. Pain therapy the main focus of medical care. If the continuous wound healing process leads to physical changes or an accompanying disease, further therapies may be necessary.
It depends on the subtype – that is, the form of the disease – whether further treatment of EB or therapies are required beyond that.
Occupational therapy and physiotherapy
Scarred tie may form on the hands and feet of the affected person. This restricts movement. To reduce movements that may cause pain, occupational or physical therapy may help. It also extends the movement-. Room for maneuver.
Treatment of tumors
In epidermolysis bullosa, the risk of skin cancer increases, because the frequent wound injuries change the dermis under the top layer of skin. Therefore, tumor treatment may be necessary if necessary.
When sores and scarring occur in the mouth or esophagus, eating through the mouth becomes very difficult. In this case, it may be necessary to feed the patient artificially through the gastrointestinal tract – with a PEG tube, which provides a direct connection from the stomach to the abdominal wall.
A disturbing side effect of epidermolysis bullosa can be problems with pronunciation, which is limited by blisters in the mouth or on the lips. A speech therapist can support speech development in this case.
For people affected by EB, wound care is part of everyday life.
Affected persons must therefore learn how to deal with their blisters and wounds. How intensive and extensive the miracle care turns out can change daily. The treatment of EB wounds is made more difficult by bleeding, dry wounds, blistering or stuck dressings.
How blisters develop?
Blisters are formed by prere and friction on the skin. If they are bulging, they can cause pain. Wounds are caused by open blisters. Depending on the type of disease, they can vary – for example in their depth. Blisters must be opened sterilely. The wound fluid should be removed in a sterile manner. As far as possible, the blister roof should be left on the wound. The open wound should be treated with appropriate dressings.
Open wound that was previously a blister.
When the dressing is changed, wound ties may have been injured too much. Wounds can then begin to bleed. If they bleed heavily, this can cause anxiety for sufferers. The experience of caregivers: Gently adherent dressings do not cause additional damage to the skin and are therefore suitable for stopping bleeding and for wound management. By moistening the material. Bathing makes it easier to remove dressings.
Alginates also have a hemostatic effect, i.e. they stop bleeding. They are therefore also suitable for the care of bleeding wounds. Alginates are acidic carbohydrates formed in the cell walls of brown algae. It is also helpful to use dark cloths in the care of wounds. The reason is the same as in the operating room: large amounts of blood appear more threatening on light-colored surfaces or materials. That is why doctors do not wear white coats when they operate.
What if bandages stick?
It often happens that dressings cannot be removed because they stick to wounds. This can cause anxiety in sufferers and cause pain. Especially children are frightened when a bandage has to be changed. Because they have often already painful experience.
There are dressings that can be used to remove bandages more easily. Dressings that contain silicone, for example, adhere gently. Thin wound dressings with a "grid structure" can also be useful – so-called wound spacer grids, which reduce the risk of stuck dressings. ointments or creams should be applied to protect the surrounding skin. Adhesives that are highly adhesive should be avoided (for example, adhesives that contain polyacrylate). The dressing change or the removal of the dressings is also easier in the bathtub or if the dressings are moistened. Oil and plaster dissolvers are also helpful in detaching the dressing material. If it is expected that the dressing change will be painful, affected persons should take a painkiller in good time.
Encrusted and dry sores
When wounds dry out and form crusts, this is very unpleasant. They can cause itching, which in turn causes wounds to reopen if the affected person scratches frequently. Wound healing is also delayed by crusts on wounds. For dry wounds and wound crusts, it is best to use dressings that keep the wound moist and create a physiological environment – ideally moist dressings accelerate wound healing.
development of odor
Wound fluid and blood can lead to an accompanying symptom, namely unpleasant odor. Which is also distressing for those affected, as the wounds can thus be noticed by people who do not see them at all. Children with EB sometimes suffer a lot and are afraid, for example, of being ostracized at school. Some sufferers therefore withdraw completely, which can lead to additional stress.
However, the unpleasant odor of the wound can be reduced by changing the dressings. This is sometimes the only way to fight the smell – for example, when bathing and showering is not possible because it is too painful. If affected persons or people in the environment feel disturbed by the odor, the dressing should be changed more frequently. It sometimes only takes a few hours for wound fluid and blood to start smelling. There are also special pads with activated charcoal, which fight odor formation.
Change of the wound
A wound changes? Then you should observe this well for the time being. There are several signs that the wound is infected or deteriorating – for example, pus or increased formation of wound fluid, odor, redness, delayed healing, or increased pain. Skin cancer can also be a cause of a wound healing disorder. If skin cancer is suspected, a biopsy is required to diagnose the disease.