Under the name Epidermolysis bullosa, Butterfly skin or Butterfly disease a very heterogeneous spectrum of genetically determined skin diseases that are associated with blistering as a result of skin fragility is summarized. Epidermolysis bullosa has an incidence of about 1: 50,000 to 1: 100,000, with both sexes being equally affected.
What is epidermolysis bullosa?
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Epidermolysis bullosa is a series of genetically or mutatively caused dermatoses (skin diseases) in which minimal trauma leads to blistering of the skin and / or mucous membranes.
Clinically, depending on the underlying mutation, epidermolysis bullosa can express itself in an extremely heterogeneous manner (from fatal courses with pronounced involvement in early life, to mild forms with acral involvement pattern, to minimal lesions that do not lead to blistering).
Traditionally, a distinction is made between three forms of epidermolysis bullosa, each of which has different subtypes. In so-called epidermolysis bullosa simplex (EBS), blistering can be observed primarily on the hands and feet (Weber Cockayne) or generalized (Dowling-Meara, Koebner-EBS). The generalized form of junctional epidermolysis bullosa (EBJ) usually involves the mucous membrane and the gastrointestinal tract, while the localized form shows acral blistering with nail dystrophy and tooth enamel defects.
The most severe form of epidermolysis bullosa dystrophica (Hallopeau-Siemens type) is associated with scarring, disability and reduced life expectancy. Secondary clinical symptoms of epidermolysis bullosa include, depending on the form of the disease, pseudosyndactylia, esophageal stenosis, muscular dystrophy, pyloric atresia, anemia, and protein and iron deficiency, developmental retardation and psychosomatic impairments.
causes
Epidermolysis bullosa is due to autosomal dominant or autosomal recessive inherited mutations in certain structural proteins of the basement membrane zone (BMZ) of the skin, which cause fragility in the affected skin layers.
The affected genes encode important structural components (hemidesmosomes, anchoring fibrils) that connect the epidermis to the dermis. As a result of the mutations, these structural elements show a loss of function or are completely absent, so that the cohesion of the skin layers is no longer guaranteed and slight trauma induces blistering in the skin and mucous membrane.
In epidermolysis bullosa simplex, mutations in the keratin or plectin genes (especially for keratins 5, 14) cause a breakdown of the keratin cytoskeleton and cytolysis (cell dissolution) of the keratinocytes in the basement membrane, while in epidermolysis bullosa junctionalis the epidermis Hemidesmosomes anchored to the basement membrane, etc. exhibit morphological and functional abnormalities as a result of mutations in the laminin-5 gene.
In a so-called epidermolysis bullosa dystrophica, the networking of the basement membrane with the underlying dermis is disturbed due to defective anchoring fibrils.
Symptoms, ailments & signs
Because of the epidermolysis bullosa, those affected usually suffer from various skin complaints, which have a very negative effect on the quality of life of the affected person and significantly reduce it. Heavy blisters appear on the skin that can cover the entire body of the person concerned. The bubbles can also appear inside the body.
They are painful and usually also filled with a liquid. There are also wounds or scars if the blisters burst. Various malformations on the body due to epidermolysis bullosa can also occur, so that, for example, toes grow together or the nails fall out.
This also significantly reduces and restricts the patient's aesthetics, so that many sufferers suffer from a significantly reduced self-esteem or from inferiority complexes. Epidermolysis bullosa can lead to bullying or teasing in children.
The patients also suffer from short stature and often from hair loss. In many cases, they continue to sweat very profusely, so that the person concerned has trouble sleeping even at night. As a rule, epidermolysis bullosa does not have a negative impact on the life expectancy of the patient.
Diagnosis & course
Epidermolysis bullosa is usually diagnosed on the basis of the characteristic blistering. Molecular diagnostics enable the exact determination of the subtype as early as the neonatal age, while a skin biopsy and antigen mapping allow statements to be made about the localization of the blistering and the specifically affected structural proteins.
Conspicuous structures and typical features in the keratin filaments, hemidesmosomes and anchoring fibrils can be assessed using an electron microscope. The course and prognosis of epidermolysis bullosa depend on the specific subtype. While the course of the frequently occurring mild EBS is usually very favorable, an EBJ (especially Herlitz EBJ) can be fatal.
Complications
The epidermolysis bullosa leads to an increased formation of blisters on the skin and also inside the body. These bubbles reduce self-esteem in many people and can also lead to inferiority complexes and thus trigger psychological complaints and depression. It is not uncommon for the blisters to leave scars and wounds.
The patient also suffers from various malformations in different regions of the body and from short stature. It is not uncommon for hair loss, heavy sweats and panic attacks to occur. The patient's quality of life is severely restricted by the epidermolysis bullosa. Blisters on the skin can also be itchy and cause severe redness.
Treatment primarily targets the symptoms and heals the blisters. These are usually broken open and disinfected. Inflammation and itching can be treated with the help of antibiotics, whereby the patient often has to make a change in diet. In many cases, the epidermolysis bullosa can be treated well, so that the disease progresses positively. As a rule, life expectancy is not restricted.
When should you go to the doctor?
If newborns show unusual changes in their skin appearance, these should be clarified by a doctor. If blisters form on the body, it is considered to be an unusual appearance. A doctor should conduct extensive investigations to determine a cause.
If there are wounds or if the affected person suffers from scarring, it is advisable to consult a doctor. In the case of open wounds, germs can penetrate the organism and trigger further diseases. A doctor's visit should therefore take place in good time. Any visual abnormality in the formation of nails on the fingers or toes is a cause for concern.
A doctor should be consulted so that treatment can be initiated. If the hair falls out for reasons that cannot be explained, it is necessary to consult a doctor. If you sweat heavily, it is advisable to discuss the symptoms with a doctor. If there are emotional or mental problems, the support of a doctor or therapist should be sought.
If you experience social withdrawal, behavior problems, or mood swings, it is helpful to consult a doctor. If you have decreased self-confidence, depressed emotions and persistent apathy, a doctor should be consulted. If you feel unwell due to the scars, it is advisable to contact a cosmetic surgeon.
Doctors & therapists in your area
Treatment & Therapy
In the case of epidermolysis bullosa, the therapeutic measures aim at symptom relief and stabilization. As part of a daily local therapy, the blisters are punctured, disinfected and the wounds are treated with moisturizing lotions, whereby plasters and adhesive materials should be avoided when treating wounds.
Self-adhesive bandages, hose bandages, gauzes in combination with fleece compresses and silicone-coated lattice bandages have proven themselves in this regard. For itching and eczematization, steroids and topical antibiotics can be used for secondary infections for a short time. Systemic therapeutic approaches for epidermolysis bullosa do not yet exist and systemically applied steroids and phenylhydantoin have not proved their worth.
In individual cases, therapies with antibiotics, retinoids or vitamin E are successful. In addition, a change in diet is recommended, as the increased epithelial regeneration and wound secretion result in an increased need for calories, minerals (especially iron, zinc) and protein.
Gene therapeutic treatment approaches, which are currently still being researched, can lay the foundations for future causal therapy. The gene concerned should be replaced by healthy or synthetically "repaired" keratinocyte transplants or with the help of external gene vehicles (especially liposomes) in order to synthesize normally functioning structural proteins and thus prevent the manifestation of epidermolysis bullosa.
Outlook & forecast
The outlook for epidermolysis bullosa is different. In one spectacular case, gene therapy saved the life of a terminally ill boy. The transplantation of genetically modified skin was carried out for the first time. In severe cases of epidermolysis bullosa, doctors believe that gene therapy offers the best chance of a complete recovery.
In most cases, the prognosis depends on the structure of a particular protein. Epidermolysis bullosa can be mild, but it can also be accompanied by severe sequelae such as skin tumors. Because epidermolysis bullosa is hereditary, it is often discovered early. With severe epidermolysis bullosa, the affected children do not reach adulthood - unless through gene therapy, which has not yet been approved. In mild forms of epidermolysis bullosa, the symptoms may lessen somewhat with advancing age.
The mild forms of epidermolysis bullosa are more common. As a result, the forecast is better overall. The symptoms of this hereditary disease are usually recognizable so early that the type of disease can be determined quickly. However, it is problematic that apart from gene therapy there are no suitable treatment approaches. The epidermolysis bullosa can therefore only be treated symptomatically. This means that mainly prophylactic and pain therapy measures as well as wound care are carried out. If necessary, surgical measures can improve the quality of life somewhat.
prevention
Since epidermolysis bullosa is genetically determined, it cannot be prevented. However, those affected should avoid trauma and heat and prevent (secondary) symptoms of epidermolysis bullosa through consistent skin care and local treatment of the blisters.
Aftercare
In most cases, with epidermolysis bullosa, the options or measures of follow-up care are very limited. Those affected are primarily dependent on the early diagnosis and treatment of this disease in order to prevent further complications and skin complaints. Complete cure can only be achieved through early diagnosis.
For this reason, rapid diagnosis of the disease is in the foreground in epidermolysis bullosa. In most cases, the disease is treated with the help of antibiotics. The person concerned is dependent on correct and regular intake and should absolutely follow the doctor's instructions. Furthermore, alcohol should not be drunk when taking antibiotics, as this can significantly reduce their effect.
Even after the symptoms of the epidermolysis bullosa have subsided, the medication should still be taken for a few days as directed by a doctor. It is not uncommon for vitamin E supplements to have a positive effect on the course of the epidermolysis bullosa. Those affected are generally dependent on the support and help of their own family so that there is no psychological upset or depression.
You can do that yourself
When dealing with epidermolysis bullosa, the patient should only use dermatologically tested cosmetic articles. In many cases it is helpful if the use of cosmetics can be avoided completely. This relieves the skin and prevents additional skin irritation. The itching and rubbing of the affected regions should be avoided completely. As a result, the symptoms increase and pathogens can enter the organism through the open wounds.
So that the body can generate sufficient defenses in the fight against the disease, it is advisable to ensure a healthy lifestyle. The immune system is strengthened with a balanced diet rich in vitamins. In addition, regular exercise and the pursuit of sporting activities promote general well-being.
To stabilize the psyche, it is helpful if the patient uses relaxation techniques. Using methods such as yoga or meditation, stress can be relieved and an inner balance is established. Conversations and exchanges with other people are always felt to be beneficial in dealing with epidermolysis bullosa.
In self-help groups, patients can share experiences with each other in a trusting atmosphere and give each other support. In conversations with relatives or people in the social environment, concerns or fears can be discussed and reduced.
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