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Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited skin disorders that cause the skin to become very fragile. In people with EB, any trauma or friction to the skin can cause painful blisters.
Types of epidermolysis bullosa
There are three main types of EB, which are described below. The condition is classified according to where in the various layers of skin the blistering takes place.
There are many different variants of the three main types of EB. So far, researchers have classified 27 variants of the condition, and there may be more that have not yet been identified. See Epidermolysis Bullosa – Symptoms for more information about the most common variants.
How common is epidermolysis bullosa?
EB is a very rare condition. It is estimated that one in every 17,000 children born in the UK will have EB. In the UK, there are currently an estimated 5,000 people living with it.
EB affects both sexes equally. The symptoms usually begin at birth or shortly afterwards.
The faulty genes responsible for EB can be passed down through families. In some cases of EB, each person who has the affected gene shows signs of the condition. Other forms of EB are inherited differently: both parents may have the faulty gene but have no symptoms of EB and no previous history of the condition in their family. They can give birth to a child with EB if that child inherits the faulty gene from both parents.
See Epidermolysis bullosa – Causes for more information about the genetics of EB.
There is currently no cure for EB, so treatment aims to relieve the symptoms and prevent complications developing, such as the blisters becoming infected.
The outlook for EB can vary widely depending on the type and particular variant of EB that a child has.
Overall, the outlook for EBS is fairly good because it carries a low risk of causing serious complications. However, it can often be a distressing and frustrating condition to live with, which can interfere with daily activities and career choice.
The outlook for a type of JEB called Herlitz JEB is very poor. As many as 9 out of 10 children with this form of the condition will die from a serious complication developing during their first two years of life.
The outlook for DEB can be mixed. Some cases are mild and cause no serious complications, while others are severe and can lead to skin cancer in later life.^^ Back to top
The symptoms of EB can vary in severity, ranging from mild to life-threatening.
Symptoms of epidermolysis bullosa simplex (EBS)
The symptoms of the most common variants of epidermolysis bullosa simplex (EBS) are described below.
Localised (Weber-Cockayne) EBS
Localised EBS is the most common form of EBS. It is characterised by painful blisters on the palms of the hands and the soles of the feet that develop after mild or moderate physical activity, such as walking, gardening or playing sport.
Although the blisters often form on the hands and feet, it is not uncommon for them to develop on other parts of the body as well, such as the buttocks or inner thighs, after they have been subjected to friction during activities such as riding a bike.
Excessive sweating can make the blisters worse, so EBS localised is often more noticeable during the summer. The blisters usually heal without scarring.
Symptoms usually become apparent during infancy or early childhood, although mild cases may go undiagnosed until early adolescence.
Some adults with localised EBS may experience thickening of the skin on their palms and the soles of their feet, as well as their fingernails and toenails.
Köbner type EBS (generalised)
In this form of generalised EBS, blisters can form anywhere on the body in response to friction or trauma. However, blisters usually develop on the:
As with localised EBS, the symptoms of this type of generalised EBS are usually more troublesome during hot weather.
There may also be some mild blistering of the mucus membranes, the layer of tissue that lines all of the parts of the body that come into contact with air, such as the inside of the nose, mouth and throat.
Scarring and milia (small white spots) may occur on the skin, but this is uncommon.
The symptoms of this form of EBS usually begin during birth or infancy. As with localised EBS, adults may experience thickening of the skin on their palms and the soles of their feet, as well as their fingernails and toenails.
Dowling-Meara EBS is the most severe type of EBS, where children experience widespread blistering across their entire body. In the most severe cases, a child can develop up to 200 blisters in a single day.
The widespread blistering can make the skin vulnerable to infection and affect an infant’s normal feeding pattern, which means they may not develop at the expected rate.
Painful blisters on the soles of the feet can affect an infant’s ability to walk and may mean that they start to walk later.
Blisters can also develop inside the mouth, making eating difficult and painful. Thickening or loss of the fingernails and toenails is another common symptom.
The symptoms of Dowling-Meara EBS usually develop at birth, but the blistering tendency gradually improves through childhood and adolescence so that adults with this form of EBS may only experience occasional blistering.
However, it is common for the skin of the palms and soles to become progressively thicker with age, and this may make walking or activities using the hands difficult or painful.
Although most people with Dowling-Meara EBS have a normal lifespan, in rare cases it may be severe in infancy and even result in death, usually from severe infection (sepsis).
Symptoms of junctional epidermolysis bullosa (JEB)
There are two main variants of junctional epidermolysis bullosa (JEB), which are discussed below.
Non-Herlitz JEB causes widespread blistering of the skin and mucus membranes. Blistering of the scalp is common and may lead to scarring and permanent hair loss.
Other common symptoms of non-Herlitz JEB include:
The tooth enamel (covering the teeth) is not properly formed in Non-Herlitz JEB, which means that teeth may be discoloured, fragile and prone to tooth decay. Extensive dental reconstruction is often necessary. The mouth is also frequently affected with blisters and ulcers, which may make eating difficult.
Some patients also develop:
The symptoms of non-Herlitz JEB usually develop at birth or shortly afterwards.
As adults, people with non-Herlitz JEB have an increased risk of developing skin cancer, so regular review by a dermatologist (skin specialist) familiar with EB is recommended.
This is the most severe type of JEB.
Herlitz JEB causes severe, widespread blistering of both the skin and the mucus membranes. In particular, the following areas of the body are affected by blistering and chronic ulcers:
Complications of Herlitz JEB are common and include:
Because of these complications, the outlook for children with Herlitz JEB is very poor. Around 40% of children with the condition will die during their first year of life and almost all children with the condition will die by the time they are five.
Sepsis and respiratory failure (due to blistering and narrowing of the larynx) are the most common causes of death.
Symptoms of dystrophic epidermolysis bullosa (DEB)
The three most common variants of dystrophic epidermolysis bullosa (DEB) are discussed below.
Dominant DEB causes blistering at places on the body that experience trauma, usually the hands, feet, arms and legs, which usually results in scarring. Millia (tiny white spots) often form at the site of the blisters.
The nails will usually become thickened and abnormally shaped or may be lost altogether.
The mouth is often affected, which can make eating or cleaning the teeth painful. Some people with dominant DEB have very mild symptoms with very few blisters, and the only sign of the disease may be misshapen or missing nails.
The symptoms of dominant DEB usually develop at birth or shortly afterwards, but may not occur until later in childhood.
Severe generalised recessive DEB (Hallopeau-Siemens)
Severe generalised recessive DEB is the most severe type of DEB because it causes severe and widespread blistering of the skin that often leaves areas covered with persistent ulcers.
Repeated scarring to the hands and feet can result in losing nails and the spaces between the fingers and toes can fill with scar tissue so the hands and feet take on a "mitten-like" appearance.
Extensive blistering can also occur on the mucus membranes, particularly inside the:
Tooth decay is common, as is repeated scarring in and around the mouth. This can often cause problems with speaking, chewing and swallowing.
As a result, many children with this form of DEB will experience anaemia, malnutrition and delayed or reduced growth. The eyes can also be affected by blistering and scarring, which is painful and can lead to vision problems.
The symptoms of severe generalised recessive DEB are usually present at birth. There may be areas of missing skin at birth, or blistering developing very shortly afterwards.
People with this type of DEB have a high risk of developing skin cancer at the site of repeated scarring. It is estimated that over half of people with severe generalised recessive DEB will develop skin cancer by the time they are 35.
Therefore, awareness of this problem and frequent check-ups (possibly twice a year) with a dermatologist are recommended.
Recessive DEB generalised – other
This form of recessive dystrophic EB is less severe than the severe generalised form. All the skin is fragile and prone to blistering, but it is not as extensive and the mucous membranes are not affected as severely.
Despite this, people with this type of EB may still have impaired nutrition, anaemia, poor growth and a slightly increased risk of developing skin cancer.^^ Back to top
To have a better understanding of the causes of epidermolysis bullosa (EB), it is useful to learn a little more about the skin.
Human skin is made up of three layers:
The epidermis and dermis meet at a point that is known as the basement membrane zone (BMZ). This contains specialised proteins that keep the two layers stuck securely together.
Faulty genes can cause one or more of the proteins in the BMZ to not work properly. This means that trauma or friction to an area of skin could result in the epidermis and dermis becoming unstuck. If the two layers become separated, a space is created that is then filled with fluid to form a blister.
The various types of EB are caused by a series of genetic mutations (faulty genes). A genetic mutation occurs when the instructions that are carried in certain genes become "scrambled". This results in some of the body’s processes not working in the normal way.
Some of the mutations associated with EB cause more disruption to the BMZ than others, which is why the symptoms of EB can vary widely from case to case.
How EB is inherited
All of the genes in your body come in pairs. You receive one half from your mother and the other half from your father.
Genetic conditions such as EB and the mutations that cause them can be passed down through families in two ways:
In EB, some variants are autosomal dominant and others are autosomal recessive.
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex (EBS) is an autosomal dominant condition. If you have EBS, one of your parents also has a history of the condition and has passed the mutated gene to you. However, if their symptoms are very mild, their condition may not have been diagnosed.
Occasionally, you may be the first in your family to be affected. In these cases, the mutation will have occurred in the womb before you were born. Neither of your parents carries the mutation and you have a new mutation.
If you go on to have children, they will have a 50% chance of developing EBS.
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa (JEB) is an autosomal recessive condition. If you have JEB, both your parents are carriers of the mutated gene but they do not have symptoms.
Your children are only at risk of developing JEB if your partner is also a carrier of a mutated gene that is known to be associated with JEB. It is difficult to estimate exactly how many people are carriers of the various JEB mutated genes, but the number is thought to be low.
If you and your partner are both carriers of a JEB mutated gene, any children you have will have a one-in-four chance of developing the condition.
Dystrophic epidermolysis bullosa
Depending on the particular variant, dystrophic epidermolysis bullosa can be either autosomal recessive or dominant.
Dominant DEB is autosomal dominant and the other types are autosomal recessive.
If you or your partner is a carrier of a mutated gene known to be associated with EB, and there is a risk of your child developing the condition, it is possible to test an unborn baby at about 11 weeks into pregnancy.
This is usually only offered when there is a risk that the baby will have a severe form of EB, and is only possible when the EB mutations are known.
The test will determine whether your child will have EB. If the test is positive (EB is confirmed) you will be offered counselling and advice so you can make an informed decision about how you wish to proceed with the pregnancy.^^ Back to top
Epidermolysis bullosa (EB) is usually diagnosed in babies and children. The symptoms of some types of EB can be mild and develop at a later stage. In such cases, EB may be diagnosed during adulthood.
Your GP will ask you about your child’s skin. For example, they may ask about what causes your child's blisters and how easily their skin is damaged.
They will also ask whether you or your partner have a family history of EB.
Your GP will examine your child’s skin to assess:
They will check for blisters on other areas of your child’s body, such as in their mouth and eyes. They may also examine your child’s nails, teeth and hair.
Following the examination, if your GP suspects EB, it is likely that your child will be referred to a dermatologist (skin specialist) for further testing.
Further testing is used to confirm the diagnosis of EB and determine which variant your child has.
Two tests are used during this process:
These are discussed briefly below.
A biopsy involves taking a small sample of skin and examining it under powerful microscopes. Looking at exactly where the blisters have developed in the various layers of skin can determine the type of EB that your child has.
See the topic about Biopsy for more information about the procedure.
Genetic testing involves taking a sample of your child’s blood and sending it to a specialist genetic laboratory.
A sample of DNA (which contains a copy of all the genetic information in the human body) can be extracted and checked for mutations that are known to be associated with EB.
A sample of both your blood and your partner’s may also be taken to help determine whether you are a carrier of one of the various EB mutations.
See the topic about Genetics for more information about genes and DNA.^^ Back to top
There is currently no cure for epidermolysis bullosa (EB) so your child’s treatment plan (or yours, if you are an adult with EB) will focus on the following goals:
Due to the rarity of EB, parents and children are usually referred to a specialist centre that employs staff with expertise and experience in treating the condition. There are four specialist centres:
Children with EB often have complex needs, particularly if they have a severe form of the condition. They therefore need to be treated by a diverse team of medical specialists working together. These types of teams are called multidisciplinary teams (MDTs). See the below for more information.
After the initial diagnosis, it is likely that you and your child will need to spend some time at the specialist centre so that a detailed treatment plan can be drawn up.
Once the plan takes effect and your child’s symptoms improve or stabilise, your MDT will be able to liaise with your GP and arrange for any necessary treatment to be provided locally, so you will only need to visit the specialist centre occasionally.
However, with the more serious types of EB, such as Herlitz JEB or severe generalised recessive DEB, this arrangement may not always be possible.
Members of your child’s multidisciplinary team (MBT) may include:
An important part of your child’s treatment plan will be practical advice about how to prevent trauma or friction to your child’s skin to help reduce the frequency of blistering. The advice that you receive will vary depending on the type of EB that your child has and the severity of their symptoms.
Here are some examples of the advice that you may be given:
Your MDT will be able to give you advice about caring for your child’s skin. For example:
It is usually recommended that new blisters are punctured (lanced) using a sterile needle. Your GP will be able to provide you with a supply of sterile needles. Lancing the blisters will prevent them getting bigger. Large blisters can leave large wounds that are more painful and take longer to heal.
After puncturing the blister, you can drain the fluid from it onto a sterile piece of gauze. If the blister refills with fluid, it may need to be drained several times. After a blister has been drained, it is important to look after the skin while it heals.
It is usually recommended that the skin on top of the blister is left in place to protect the lower layers of skin. There may be no need for a dressing. You may be advised to "dust" the blister with cornflour to help dry it and to reduce further friction.
If a wound dressing is needed, it is best to use one that does not stick to the skin and is easy to remove. To hold a non-stick dressing in place, you may be advised to use a sock, cotton bandage or tubular bandage.
Open wounds or raw patches of skin can often become infected, which will need to be treated. Signs that an area of skin has become infected include:
If you think your child has a skin infection, inform your GP as soon as possible. Left untreated, a skin infection can often spread quickly to other parts of the body, particularly with the more severe variants of EB.
Treatment for skin infections include:
The need for pain relief will vary, depending on the severity of your child’s symptoms. The blisters and wounds that they leave can be very painful and may make simple activities, such as moving and walking, difficult.
Milder variants of EB, such as EBS, may only require painkillers that are available over the counter, such as paracetamol or ibuprofen. In more severe types of EB, stronger painkillers such as codeine or morphine may be needed, either for background pain or for procedures like dressings changes or bathing.
Children under the age of 16 should never be given aspirin as there is a small risk that it could trigger a serious condition called Reye’s syndrome that can cause liver and brain damage.
Some types of EB that cause chronic (long-term) pain may require different medicines, such as amitriptyline or gabapentin. These were originally designed to treat depression and epilepsy but they later proved effective in treating chronic pain.
Soreness caused by blisters inside your child’s mouth can make cleaning their teeth difficult. Good dental hygiene with a soft toothbrush and fluoride-containing mouthwash, as well as regular visits to a dentist, are important.
See the topic about Dental care for babies and children for more information and advice.
Children with Herlitz JEB and recessive DEB often experience blistering and irritation in and around their eyes. This usually requires treatment with eye drops and ointments to keep the eyes moist.
Feeding and nutrition
If your baby has blisters in their mouth, it can cause problems with feeding. Your MDT should be able to give you advice about how to overcome feeding problems. For example:
If your child is older, your MDT will also be able to give you advice about their diet. The healing process makes great demands on the body. Therefore, a healthy diet is very important to help heal your child’s skin wounds and avoid malnutrition.
To help your child’s wounds heal, you may be advised to give them a diet that is high in calories and to increase the amount of protein that they eat. Your child may have difficulty eating large portions of food, but there are ways you can boost the nutritional content of smaller meals. For example:
Your child may also need to take supplements in the form of milk-based drinks or puddings that have high levels of protein and/or calories. Supplements of vitamins, iron or zinc may also be required if they are found to be deficient in these on blood tests. Your dietitian will be able to advise you about this.
Constipation can be a common problem for children with ED, particularly if they find it difficult to digest high-fibre foods, such as wholemeal bread or muesli. If your child regularly experiences constipation, they may benefit from having a fibre supplement.
In more severe or troublesome cases, an osmostic laxative may be required. This is a medication that helps to soften stools and makes them easier to pass.
See the topic about Constipation – Treatment for more information and advice.
Further information about diet and nutrition is also available by downloading the following leaflets that are produced by DebRA, which is the UK based charity for people with EB.
Surgery may be required to treat some of the complications that can arise in cases of EB.
Different types of surgery that may be required are outlined below.
A great deal of research is currently being carried out to try to find a cure, or at least more effective treatments, for EB.
Areas of research include:
Initial results in all of these areas have been promising, but it may take several years until researchers come up with treatments that are both safe and effective.
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