Fragile Butterfly Wings…
Can Epidermolysis Bullosa be cured?
Epidermolysis Bullosa If your child is born with Epidermolysis Bullosa, one of the first questions you are likely to ask your doctor is if there is a known cure for the condition. Unfortunately, the short answer is no, for now at least. Epidermolysis Bullosa has no known cure. However, this does not mean all hope is lost for anyone suffering from Epidermolysis Bullosa. Here is everything you need to know about the condition and how it can be managed.
What is Epidermolysis Bullosa?
Epidermolysis Bullosa is a rare genetic condition that is characterized by fragile, blistering skin. Children that are born with the disorder are commonly referred to as ‘butterfly children’. This is because their skins are just as fragile as butterfly wings. If a child has a mild form of the disorder, there is a high chance it would get better as the child ages. However, severe cases could prove very difficult to manage. Worse still, they can be life-threatening or lead to the development of other serious medical conditions.
Types of Epidermolysis Bullosa (EB)
There are three major types of EB. The types are categorized based on the appearance and nature of the skin blisters.
EB Simplex: This is by far the most common type of the disorder. The blisters are commonly found in the soles of the feet and palm of the hands. EB simplex usually affects newborns.
Junctional EB: Although this type of EB is also commonly found in newborns, it is much more severe than EB Simplex. The blisters tend to appear in the deep layers of the skin.
Dystrophic EB: This occurs as a result of collagen deficiency. Collagen is the substance that is responsible for maintaining the integrity of the skin. People with this type of EB do not have this substance or in some cases, the collagen may be present but unable to do its job. The skin appears loose and soft and the condition may not appear until early childhood.
Kindler syndrome and EB Acquisita are the other types of the disorder but are not as common as the three types mentioned above. `
What causes EB?
Virtually all types of EB are genetic in origin. Children that have EB must have inherited certain faulty genes from their parents. It would be easily traceable if the parents also have EB. however, the parents may just be carriers of the faulty gene in some cases. The disease would not manifest in such parents in cases where they are only carriers.
The only type of EB that is not inherited is EB acquisita. This usually occurs when there is a problem with an individual’s immune system.
Symptoms of EB
Painful skin blisters are the major symptoms of EB. The part of the body on which they occur depends on the specific type of EB. However, the palms of the hands, the soles of the feet, and the mouth are the most common spots for all types of EB. the other symptoms include:
- Thickened skin and nails
- Scarred skins that may present with milia (small white spots)
- Skin that blisters easily.
How is EB diagnosed?
The symptoms of EB are usually obvious from birth. Thus, it can be easily diagnosed by your neonatal team. In mild cases, the symptoms may not appear until late childhood or early adulthood. If your child presents with any of the symptoms described above, you should inform your doctor immediately or take them to a dermatologist. The dermatologist may order a skin biopsy in order to confirm EB.
If the parents have EB or are known carriers of the disorder, they may opt to test their unborn fetus for EB. the test can be carried out during the first trimester of pregnancy. If the test comes out positive, you would be counseled in a bid to prepare your mind for the arrival of the child. And if you choose not to proceed with the pregnancy, the decision would be solely yours.
Complications of EB
If EB is not managed properly, it could lead to potentially life-threatening complications. Below are some of the common complications of EB.
- Infection: the skin serves as a natural barrier that prevents the entry of microorganisms. When blisters appear on the skin, the compromised area is prone to infections.
- Sepsis: when bacteria from an infection site gain access to the bloodstream, they can spread to other organs of the body. Sepsis is a life-threatening condition that could lead to septic shock organ failure.
- Nutrition problems: when a child develops blisters in the mouth, eating becomes difficult. This could lead to malnutrition and accompanying problems such as stunted growth, anemia, delayed wound healing, etc.
- Constipation: painful blisters in the anal area and a failure to ingest an adequate amount of fluids could lead to constipation in children suffering from EB.
- Fusion of fingers and joint changes: in severe cases of EB, the patient’s fingers or toes could fuse together. Other joints could also become deformed or assume an abnormal shape.
- Skin cancer: EB is known to increase the risk of developing squamous cell carcinoma, especially in adolescents and adults.
- Dental problems: People suffering from EB are known to have a high rate of tooth decay as well as other problems with the structures inside the mouth.
How can you manage EB?
As mentioned earlier, there is no known cure for EB, and the disease cannot be prevented. The good news is that the condition can be managed. The aim of EB management is to relieve the symptoms, prevent complications, and improve the overall quality of life of the patient.
If your child has a severe case of EB, the management would be similar to the care of an individual with severe burns. You may have to dress the wounds daily and bandage the blistered areas in order to prevent the free entry bacteria. If the patient is experiencing a lot of pain, the doctor may prescribe an analgesic.
In certain cases of EB complications, surgery may be necessary to manage the disease. You may have to consider surgery if there is a fusion of the fingers or toes or if EB severely affects the esophagus.
When a child or adult suffering from EB is unable to eat, the doctor may place them on a special diet or recommend a feeding tube outright. The feeding tube bypasses the mouth and esophagus and takes the food directly into the stomach.
Below are some useful steps that could help you prevent blisters and other EB complications.
- Handle your child gently: Imagine how you would handle someone with burns all over the skin. That is exactly how you should treat a child with EB. Always place them on a soft material such as cotton. You should also be careful to never lift them from under the arms. Rather your hands should provide support behind the neck and under the buttocks whenever you’re lifting.
- Keep the home environment cool: High temperatures could lead to skin blistering. Thus, you should always set your thermostat to ensure that the temperature in your house is always regulated.
- Be extra careful with the diaper area: If your child must use a diaper, you should spread it with a layer of zinc oxide or line it with a nonstick dressing. Cleansing wipes should be completely avoided.
- Always keep the skin moist: you can achieve this by applying lubricants such as petroleum jelly. Needless to say, you should be very gentle while applying.
- Prevent scratching: It’s important to avoid any uncomfortable condition that could lead to scratching. Additionally, you should trim your child’s nails such that the effect of any scratching would be mild, if it occurs. You could also put mittens on the child at bedtime.
- Pay attention to your child’s clothes: it is important you dress a child with EB in soft clothes. The clothes must be easy to put on and off. You could also consider sewing foam pads into the linings of pressure points such as elbows and knees.
In general, you should avoid anything that could make the condition worse. Your doctor may also recommend popping the blisters with a sterile needle but you should be sure to talk with your doctor before doing this. Furthermore, you should monitor your child’s activities in order to ensure they are low-impact activities. Swimming is especially recommended for people with EB. as the child grows older, you should educate him or her about the condition so they can avoid the everyday bumps and scratches others would take without any damage.
Much thanks to Marie Baker for the great article and to the photo team for the great editorial:
Photographer: Ayman Dayrabaeva
Assistant: Yuriy Dudkinskiy-Pavlov
Model: Daniil Osipov
Assistant: Tamara Mitryashina