- 1 What is epidermolysis bullosa?
- 2 Types
- 2.1 Simple bullous epidermolysis (EBS)
- 2.1.1 Generalized simple bullous epidermolysis
- 2.1.2 Localized simple bullous epidermolysis
- 2.1.3 Epidermolysis bullosa simplex herpetiformis
- 2.1.4 Ogna-type simple bullous epidermolysis
- 2.1.5 Simple bullous epidermolysis with muscular dystrophy
- 2.1.6 Simple bullous epidermolysis with mottled pigmentation
- 2.1.7 Simple bullous epidermolysis with circinized migratory erythema
- 2.2 Epidermólise bolhosa juncional (EBJ)
- 2.3 Dystrophic bullous epidermolysis (EBD)
- 2.4 Acquired bullous epidermolysis (EBA)
- 2.5 Rarity of each type
- 2.1 Simple bullous epidermolysis (EBS)
- 3 Causes
- 4 Is epidermolysis bullosa contagious?
- 5 Groups of risk
- 6 Symptoms
- 7 How is the diagnosis of bullous epidermolysis made?
- 8 Can epidermolysis bullosa cure?
- 9 What is the treatment?
- 10 Medicines for epidermolysis bullosa
- 11 Living together
- 12 Complications
- 13 How to prevent bullous epidermolysis?
What is epidermolysis bullosa?
Bullous epidermolysis (EB) defines approximately 30 rare and unresolved diseases caused by a genetic defect in the attachment of the epidermis layer in the dermis. Skin and mucous membranes become fragile and blister with any mild trauma. The disease affects 1 in every 50 thousand people born.
The epithelium is the lining of the body. The skin of your hand and the mucosa of your organs enter here.
In the skin, there are two layers that are connected to each other by protein anchors: the epidermis is the outermost layer. It protects the body from infections, loss of fluid and heat. It is formed mainly by keratin and serves as a barrier between the body and the environment.
Below the epidermis is the dermis and together they form the skin. The dermis is responsible for the elasticity and nutrition of the skin, being mainly formed by collagen and elastin. It is in the dermis that the blood vessels that nourish the epidermis are located, in addition to the nerves. It is responsible for 90% of the thickness of the skin.
Because of a genetic mutation, those who have bullous epidermolysis do not have the protein anchors between the epidermis and the dermis, or these anchors are fragile. Any scratch, tug, impact or friction, even the slightest, moves and separates the two layers.
This causes painful blisters and a tendency to become infected. In the most severe versions of the disease, the layer that lines the internal organs is also affected and the person may even be born without skin.
Children with the disease are called “butterfly children” due to the fragility of their skin, comparable to the wings of a butterfly.
There are more than 300 genetic mutations that can cause dozens of types of bullous epidermolysis. The disease is divided into three categories and each is divided into several subcategories. Are they:
Simple bullous epidermolysis (EBS)
Mutations in keratins 5 and 14, types of skin proteins , cause this type of epidermolysis. It is the mildest version of the disease. The blisters grow in the lowest layer of the epidermis, mainly affecting the areas with the most friction of the skin. The person will have blisters on the feet, hands, knees and elbows. The blisters don’t always leave scars.
Overall, the disease is severely disabling, but life expectancy at EBS is normal, with the exception of EBS herpetiform and EBS with muscular dystrophy, which has high mortality rates.
Among the subcategories of EBS are:
Generalized simple bullous epidermolysis
Generalized simple bullous epidermolysis is characterized by blisters on all parts of the body that suffer frequent friction.
Localized simple bullous epidermolysis
This type is characterized by blisters mainly on the palms of the hands and soles of the feet.
Epidermolysis bullosa simplex herpetiformis
Known as simple Downling-Meara or herpetiform epidermolysis bullosa , this type is differentiated from the others because its blisters have a formation similar to that of herpes.
Several small bubbles form together. This version shows a high risk of death in early childhood and a significantly high chance of skin cancer in adulthood.
Normally, elevated body temperature worsens EB, but in the case of herpetiformes, the opposite happens and the patient shows improvement when he has a fever .
Ogna-type simple bullous epidermolysis
This type mainly affects the extremities of the body such as fingers and toes. Nails are often deformed.
Simple bullous epidermolysis with muscular dystrophy
Extremely rare and with only 40 cases described, this EBS is accompanied by muscular dystrophy, that is, loss of muscle mass, between childhood and adulthood.
It usually affects other parts besides the musculature and the skin. In addition, it hinders the development of teeth and may be accompanied by blisters in the mouth, pharynx and, rarely, larynx and trachea.
Simple bullous epidermolysis with mottled pigmentation
Characterized by bubbles with brown spots, this EBS is accompanied by slightly deformed nails and thickening of the epidermis of the palms and soles.
Simple bullous epidermolysis with circinized migratory erythema
This EBS presents lesions in the limbs and trunk that leave no scar, but a brown pigmentation. It only affects the skin. There are only two families in the world with this version of the disease.
Epidermólise bolhosa juncional (EBJ)
One of the serious versions of bullous epidermolysis, junctional EB , forms bubbles at the junction between the dermis and the epidermis. The blisters can also appear on the mucous membranes, such as the mouth, trachea, esophagus, among others.
This type of EB can lead to significant peeling of the skin. It is especially dangerous for children because it causes severe fluid loss and a high risk of infections. It is caused by mutations in laminin 5, another skin protein. It is also divided into subcategories.
Herlitz junctional epidermolysis bullosa
A more severe version of EBJ, in Herlitz disease, the baby may be born with blisters or lesions on the fingers or with large pieces of peeling skin, which spreads to the mucous membranes of the mouth and gastrointestinal system.
Fluid loss, infections and malnutrition caused by symptoms can lead to death in the first year of life.
Epidermólise bolhosa juncional mitis
It is a milder version of the disease. The problems caused by it are mostly respiratory and hair loss.
Junctional bullous epidermolysis with pyloric atresia
In this version, the disease is accompanied by the narrowing of the pylorus, the muscle that is in the final portion of the stomach and connects it to the duodenum (initial portion of the small intestine).
Although little studied, there are also the following variations in EBJ:
- Generalized benign atrophic bullous epidermolysis ;
- Epidermólise bolhosa juncional cicatricial.
Dystrophic bullous epidermolysis (EBD)
Another of the serious versions of the disease, it has approximately ten variations. It is characterized by the mutation of collagen VII.
When there is a complete absence of collagen VII, it is classified as severe. If there are only changes in the protein, it is considered mild. Dystrophic bullous epidermolysis may be autosomal dominant or recessive.
The dominant version, known as Cockayne-Touraine disease, is more common and accompanies large blisters mainly on the knees, legs, elbows, behind the hands and under the nails, which can lead to scarring and nail loss.
In the recessive version, called the Hallopeau-Siemens variation, the symptoms and consequences are more severe.
Repeated scarring between the fingers can stick them together, making it difficult to move the hands and feet. Dental enamel can be affected and wound healing in the pharynx may require exclusively liquid food or surgery to open the canal.
Blisters in the mouth and their healing can reduce oral mobility and make feeding and brushing difficult.
The eyes may be affected and the patient’s vision may be threatened. Sores on the skin and mucous membranes cause pain in different parts of the body. In addition, these patients may experience constipation and problems dressing without injuring themselves.
Acquired bullous epidermolysis (EBA)
This variation, different and even rarer than the others, is not genetic. EBA usually develops in adulthood and is an autoimmune disease. This means that the person’s immune system attacks your skin, causing bullous epidermolysis.
The production of autoantibodies, which attack the person’s collagen 7, may be related to other diseases: diabetes mellitus, thyroiditis, systemic lupus erythematosus, Crohn’s disease , lymphoma, autoimmune thrombocytopenia and pernicious anemia, but these connections are not proven.
Rarity of each type
It is estimated that of the 9 clinical cases per million people in the general population, 92% are of Simple EB, 5% of Dystrophic EB, 1% of Junctional EB and the other 2% are not classified.
Simple EB is much more common than the other variations, and its diagnosis can be confused with other diseases.
The causes of EB are exclusively genetic (with the exception of the acquired variation).
To explain how the disease passes from generation to generation, we can divide it into recessive and dominant , in any of the types of the condition.
A little bit of genetics
Humans have 23 pairs of chromosomes, one of which defines the person’s biological sex. The other 22 pairs are called autosomes and will define body characteristics such as height, eye color, hair and everything else.
The sperm carries half of the genetic load of man. That is, it does not take the 23 pairs, but only 23 chromosomes alone. The egg does the same, taking 23 chromosomes from the woman. When they come together to create the baby that will be born, genetics are formed in pairs of the child with the sum of the parents’ chromosomes.
Bullous epidermolysis is caused by a genetic change in one of the autosomal pairs (which of the pairs varies, depending on which is the variation of the disease).
When it is recessive, it is necessary for both chromosomes of the affected pair to be changed, but if it is dominant, it is enough that one of them is so for the disease to manifest.
For a recessive disease to manifest, the two chromosomes in the pair must have the change. If only one of them is changed, the disease does not appear.
Imagine that both parents of a child have only one of the chromosomes altered.
Altered 1 – Normal 2
Normal 1 – Altered 2
Neither of them has the disease, but they can pass it on to their children. Of these chromosomes, only one of each will go to the child. It has four possible combinations:
Normal 1 Normal 2
Normal 2 Altered 2
Altered 1 Normal 1
Changed 1 Changed 2
In the first combination, there is no altered gene and that person cannot pass the disease forward, nor will he manifest it. In the two combinations of the environment, the child is like his parents: he does not manifest the disease, but he has the possibility of passing it on to his children.
The fourth combination is a child who manifests the disease. If that child has children, they will all carry at least one of the altered genes.
If only one parent has the altered gene, none of the children will manifest the disease as they will have, at most, only one altered gene.
When the disease has a dominant characteristic , it is enough that one of the chromosomes in the pair is altered for it to manifest. Let’s show it again:
Normal 1 – Normal 2
Normal 1 – Altered 2
In this case, only the father has the altered gene. But as we are dealing here with the dominant version of the disease, it manifests as bullous epidermolysis. The son of this couple has 4 possibilities:
Normal 1 Normal 1
Normal 1 Altered 2
Normal 2 Normal 1
Normal 2 Altered 2
The difference here is that just one altered gene is enough for the disease to appear. The first and third combinations do not have the disease nor are they able to pass it on to the next generation, but the second and fourth combinations manifest the condition and transmit it.
Bullous epidermolysis is not an infectious disease. Due to the unpleasant appearance that the disease gives to the skin, EB patients suffer prejudice from those who do not know the disease, which is rare. Many may believe that the disease is contagious.
In 2013, Brazilian choreographer Deborah Colker called attention to the disease when the aviation company Gol requested a medical certificate for her grandson, who suffers from bullous epidermolysis, on a flight, when the child was already inside the plane. The doctor on duty at the airport had to be called in for a certificate to be given.
It is recommended that patients with the disease carry a certificate to avoid embarrassment and prove that EB cannot be transmitted.
Several contagious diseases can be identified by skin wounds and can be confused with EB, especially because it is such a rare disease.
The risk group includes people whose parents have the altered gene. DNA tests can identify whether there is a change that causes the disease and whether there is a risk of passing it on to your children.
No one can be infected with the disease and it can be noticed as soon as the baby is born. However, it is not always necessary for parents to have the altered gene.
A child can be born with the altered gene even if neither parent has it. The genetic mutation can happen alone, randomly. The disease is extremely rare in itself and the situation of the mutation occurring on its own is even rarer, but possible.
Each type of epidermolysis bullosa has its own symptoms, but they all have blisters as the main one. With the exception of simple herpetiform epidermolysis bullosa, symptoms are usually exacerbated in heat.
Any scratch, impact or trauma on the skin causes blisters, which can appear in the most diverse places: Face, hands, feet, fingers, under the nails, lips, mouth, windpipe, esophagus, stomach, intestine, eyelids, eyes, knees, elbows ; basically, anywhere you can have bubbles.
Simple bullous epidermolysis
The blisters of this type of EB mainly reach the palms, soles of the feet, knees and elbows. These are the regions with the most friction in the body.
In some variations of EBS, they can appear in other parts of the body. These blisters appear in the deepest layer of the epidermis , which is the top layer of the skin.
The blisters usually do not leave scars. This is the less severe version of the disease and, despite being a major threat to the patient’s quality of life , his life expectancy is the same as that of people without the disease.
The first bubbles begin to appear when the baby starts to crawl and walk. The feet can suffer from repeated rashes, which can lead to painful hardening of the sole. Shoes of wrong sizes and sweat on the feet can make this condition worse.
Junctional epidermolise bolhosa
This type of EB has its bubbles at the junction between the dermis and the epidermis. It is a more severe version of the disease. In the most severe types, the child may be born with blisters on the fingers and skin, peeling off much of the body.
The bubbles spread to the mucous membranes and the gastrointestinal canal. Because of fluid loss, infections and nutritional deficiency caused by blisters in the digestive system, the child may face a high risk of death in the first year of life.
Other symptoms include dental and mouth problems, nail abnormalities, hair loss, corneal detachment and narrowing of the opening to the small intestine. The mildest variations of EBJ are linked to respiratory problems and hair loss.
Dystrophic epidermolise bolhosa
One of the most serious forms of the disease, its blisters are formed in the upper part of the dermis, which is the lower layer of the skin. It has large blisters on the knees, legs, elbows, hands and mucous membranes.
Repeated blisters between the fingers can cause healing to stick together, making surgery necessary for separation. Repeated wounds in the same places can also develop into skin cancer.
Blisters in the mouth and in the gastrointestinal canal are common, which can lead to malnutrition, since the patient may refuse to eat because of the pain and the wounds hinder the absorption of nutrients.
There is a possibility that lesions in the pharynx and esophagus make feeding impossible and a liquid diet becomes inevitable.
Surgery may be necessary to bring food to the stomach if healing heals the walls of the esophagus. Anal fissures and constipation are also common.
Osteoporosis is also linked to recessive EBD and the bone problem can appear in children, commonly between 5 and 12 years of age. EBD is also linked to eye injuries.
In both junctional and dystrophic EB, tooth enamel can be thinner than normal. They can also become weak. The tooth can be oversensitive, as well as being more vulnerable to cavities.
Lack of oral mobility
Junctional and dystrophic EB bring blisters in the mouth whose healing can make oral mobility difficult. The gums, lips and cheeks are affected. Swallowing can become difficult.
Pain is frequent for patients with the most severe versions of this disease. Blisters and mucosal lesions can cause severe pain.
Itches are recurrent on patients’ skin, which can cause new blisters.
The most severe variations of the disease can leave scars and spots on the skin after the wounds close.
Some variations of the disease can slow healing. This can cause serious infections.
Loss of liquid
Frequent blisters usually leave open wounds on the patient. Depending on the variation of the disease, these wounds can take up a large part of the body. One of the main roles of the skin is to retain the body’s fluid, and without it, evaporation and bleeding takes a lot of that fluid.
When the blisters are spread over a large area, especially in the mucosa, loss of iron through the wounds can occur, which leads to anemia.
Symptoms can usually be seen at birth. A doctor can make the diagnosis based on symptoms and family history, but there are more specific ways to identify the disease and its type:
This test, which analyzes the condition of specific cells, can be used to identify EB in patients.
Immunofluorescence antigen mapping exam
Through immunofluorescence antigenic mapping, which is an exam used to identify immunological reactions, it is possible to find out what type of protein (especially laminin 332 and collagen 7 and 17) has mutated or is missing from the skin.
The protein being affected is what differentiates one subtype of EB from the other.
Transmission electron microscopy (MET)
With the use of MET, it is possible to observe and define the detailed structure of the bubbles that form and thus the technique identifies which of the four types of EB the patient lives with.
Through this exam, it is also possible to analyze the specific proteins that are damaged and to diagnose the subtype of the disease.
DNA tests in order to look for the mutations that cause EB can be performed. Thus, it is possible to identify the different types of the disease.
If the mutation that causes the disease is known in the parents, it is possible to find out, in prenatal examinations, if the baby has bullous epidermolysis.
No, EB has no cure. Because it is a genetic disease, the skin that is born after a wound will also have the same problem and will be prone to blisters.
There is no definitive treatment for epidermolysis bullosa. In general, what you do is treat the symptoms, take care of the blisters and wounds and avoid infections. We talked about this in the “coexisting” section, a little later.
However, there are experimental treatments. Are they:
Stem cell gene therapy
In 2015, Hassan, a Syrian boy refugee in Germany, was hospitalized after having lost 80% of his skin to bullous epidermolysis.
The boy was treated with morphine, to avoid pain, and there was nothing to do for him. The doctors then called the Italian researcher Michele de Luca to try an experimental treatment.
Bubble-free pieces of Hassan’s skin were removed and taken to the Italian laboratory, where the stem cells that govern skin regeneration were modified so that, when they multiplied, they would create cells with corrected genetics.
This genetic modification was produced through a harmless virus modified to inject the correction of the genes in the stem cells.
The cells in Hassan’s epidermis multiplied in the laboratory, so doctors were able to reimplant it into the boy. Six months later, he was going to school.
Your new skin is no longer sick and has fixed itself firmly on the dermis. It has already suffered cuts and scrapes, but it has regenerated normally and no bubbles have emerged.
Still in its experimental phase, the genetic modification of the skin outside the body, called ex vivo gene therapy , in addition to stem cell treatment techniques, saved the life of the boy who is now 9 years old.
Hassan still has the junctional variety of the disease. Your internal organs may still suffer from EB, but the skin is healthy and the researchers believe it will stay that way.
Although it is not a cure, the boy’s quality of life has increased a lot and is one more step in gene therapy, the only real hope of curing diseases of this type.
Blood and bone marrow transplantation is the most effective treatment used today. Because of the high risks of transplantation, it is only indicated for patients with the most severe forms of the disease.
Most of the patients who underwent treatment experienced improvement in symptoms.
This transplant works because, through bone marrow replacement, stem cells can reach the skin and create the proteins that are lacking in it.
The transplant does not cure, but it helps a lot. The big problem is that it is necessary to suppress the patient’s immune system for the transplant and this dramatically increases the risk of serious infections in those who have large blisters.
Bullous epidermolysis acquired
It is possible to treat acquired epidermolysis bullosa with some types of medication:
It is a toxic substance that is used in the treatment for gout . Its use for EB is experimental and is used to treat mild cases of EBA.
In the most severe cases of EBA, cyclosporine, an immunosuppressant, can be used to reduce symptoms.
Immunoglobulin is an antibody present in low amounts in the human body. Its application in EBA patients shows reduced symptoms and improved quality of life.
Caring for wounds
Generally, treating EB involves taking care of wounds and preventing more of them from forming. This is possible through gentle cleaning and care.
Over time, the patient ends up learning to be gentle and to avoid blisters. Impacts, scratches, pulls, any trauma can cause blisters, so they should be avoided as much as possible.
Wounds, which in the most serious forms of the disease are unavoidable, must be treated to prevent infections. Dressings should not be removed without delicacy, to prevent new blisters from forming.
Some medications can be used, such as painkillers and healing agents, with the intention of preventing and curing blisters.
There are no medications to cure the condition. However, some of the symptoms can be relieved with them.
At first, scarring for blisters, painkillers for pain and antibiotics to prevent infections are the main drugs. Some of the medications available in Brazil are as follows:
- Dexpanthenol (Bepantol) .
- Sodium dipyrone ;
Acquired Epidermolysis Bullosa
- Immunoglobulin ;
- Cyclosporine ;
The Curefini ointment, developed in Argentina and marketed in the United States, was created to help in the healing of burns, but it has been shown to be effective in patients with bullous epidermolysis. Ointment is not illegal in Brazil, but its commercialization is not permitted by ANVISA.
In 2016, a court decision ruled that SUS would pay for the import of ointments for the family of Lucas Costa, a 9-year-old child who has Epidermolysis Bullosa. Each pot of ointment costs 30 dollars and the child uses up to 10 pots a day.
NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.
Living with bullous epidermolysis can be challenging. Simple and junctional epidermolysis have a tendency to relieve with age, but dystrophic epidermolysis does not.
There is no accessible treatment that stops the formation of blisters, which will form on the skin throughout the patient’s life. What you can do is prevent them from arising. Some tips are:
Botox application on the feet can prevent the appearance of blisters on them.
Right at birth or in the first days, the disease can be seen easily. A baby is very vulnerable to the world for not having the antibodies needed to fight the bacteria of the day, so the open wounds are very dangerous.
If the child does not have a special reason, such as being born severely underweight, he should not be placed in the incubator, as the temperature can worsen the condition.
Any friction can cause blisters, so the child should be laid down and carried in soft tissues, such as sheepskin. The child should not lie down naked in the cradle as he may be injured, he must not be lifted under the arms and his clothes must have the outer seam.
It is possible that the bubbles make it difficult for the baby to suck, which will have difficulties in breastfeeding. For these cases, there are specific baby bottles, such as the Haberman feeder.
Despite all the care taken, the bubbles will inevitably appear. So, here are some precautions:
The skin must be clean and the blisters must be opened and drained with a sterile needle , to prevent them from growing. The blister cover should not be removed and the dressings should be carefully changed two to three times a week or as needed.
Changing large dressings may require experienced people, as they can take hours. Wounds should be watched carefully and wetting the dressings can facilitate their removal.
Adhesive dressings should not be used as they pull the skin causing more blisters.
Try to use gloves and socks to sleep, to avoid as much friction as possible.
Dry yourself or the patient with soft towels, taking care, without rubbing them on the body, but with light touches of the fabric.
Especially in EB Simples, it is important that sweating on the hands and feet is avoided as much as possible in this version of the disease, as it exacerbates the symptoms.
Avoiding impacts is necessary. During growth, the patient learns to avoid impacts and trauma that can cause blisters.
Blisters in the mouth
In cases where the blisters affect the mucosa, it is necessary to prevent them. Food should not be too hard.
It is necessary to use moisturizer for the lips before each meal and, to facilitate chewing and swallowing, the mouth can be rinsed with vegetable oil or an oil-based spray can be used.
Teeth, which are more sensitive to cavities, can be protected by reducing sugar consumption. The dentist must be part of the patient’s medical team and be informed of the condition and the necessary care to avoid any injury or irritation to the mucous membranes.
Jets of water and air, in addition to non-superficial injections, should be applied with extra care.
If the patient has the trachea or pharynx affected by the disease, the surgical team must be well prepared and informed about the consequences of wounds on the mucosa.
For example, if the pharynx is blocked by scar tissue, gastrostomy surgery may be necessary, which serves to feed and eliminate waste from patients who cannot use the digestive system for some reason.
Different specialists can be consulted depending on where the internal symptoms of the disease are located.
Psychological and social support is necessary for the family and it is important to keep the people around the patient – whether at daycare, school or the workplace – well informed about the condition. Parents are encouraged to have physical contact with the child, even in the most severe conditions of the disease.
Several complications can come with bullous epidermolysis. Are they:
Limited movements are a consequence of the fragility of the skin.
The patient with simple bullous epidermolysis may find it difficult to use the hands and feet when they are full of blisters. Junctional and dystrophic ones, on the other hand, can face serious injuries with a simple walk, due to the friction between the sewing of the clothes and the skin.
Any careless movement can impact objects, in addition to the patient’s own body that moves. Accidents such as falls, bumps and trips can create huge bubbles in different parts of the body.
Repeated scarring in places such as the inside of the elbow, knees, feet or any fold in the body can make the fabric thicker, which also limits movement. Even sitting in one place for a long time can open bubbles.
Blisters and frequent and open wounds cause pain with movement, which also represents greater difficulty in walking, grabbing objects, chewing, eating, bathing, exercising among other activities.
Loss of hair
Depending on the type of epidermolysis that affects the person, the hair root, which is in the dermis, is compromised and the hair can fall out.
The wounds, common in places of great friction such as knees, elbows, hands and feet, over the years, are repeated, and this chronic tissue damage increases the chances of the development of skin cancer, which is common in these patients.
Patients affected by junctional and dystrophic epidermolysis may develop malnutrition in several ways.
Repeated wounds in the esophagus can make eating very painful.
Blisters in the intestine can reduce the absorption of nutrients and it is possible that the pharynx and larynx will narrow with healing and even close completely, requiring emergency surgery.
Bacteria find their way easily through wounds, and bullous epidermolysis patients have wounds all the time.
In the most severe cases, more than half of the patient’s skin may be missing and, without this protection, bacteria and fungi gain access to the body without major problems.
Infections can progress to the point of sepsis (generalized infection). This condition is extremely dangerous and can lead to death.
Diseases that affect a person’s body image can lead to several psychological problems of self-esteem. In addition, the social difficulties that a child with bullous epidermolysis may face are diverse due to prejudice and misinformation.
There is no specific way to prevent bullous epidermolysis. What is possible is to do the DNA test to find out if the altered gene exists in your body and make decisions based on that information.
An alternative is to seek genetic counseling. This advice is provided by a geneticist who will examine and explain any genetic changes you may find, showing the possible options and paths for the couple who wish to have children.
Preimplantation genetic diagnosis
In situations of medically assisted reproduction, such as artificial insemination or in vitro fertilization, it is possible to make the diagnosis of the disease before implantation of the sperm in the egg.
With this identification, it is possible to select which cells will be used in the implantation, drastically reducing the risk of the mutation that causes this or another genetic disease to occur.
Very rare disease, but with immense impacts on the lives of those who suffer from it, bullous epidermolysis affects the quality of life of people all over the world. Share this text with your friends so they know about this disease too!