Fact: Approximately 200 children a year are born with EB
What is Epidermolysis Bullosa?
Epidermolysis Bullosa (EB) is group of rare genetic diseases that causes the skin to be fragile. Because the skin is so fragile, it can be easily injured, causing painful blisters to form. The blisters may appear in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or intestines.These blisters can cause serious problems if they become infected,
Epidermolysis Bullosa can result from a genetic mutation in one of 18 genes. These mutations, or errors in the genetic code, do not allow the body to either produce an essential protein or produce a working form of the protein thus resulting in extremely fragile skin. EB can also be an autoimmune disease in which the body produces antibodies to the structural components of the skin. The severity of EB is generally dependent upon many factors including type, subtype, and inheritance pattern. EB has been categorized as encompassing 5 major types (Simplex, Junctional, Dystrophic, Kindler Syndrome, Aquisita) and 31 subtypes, therefore it is commonly referred to as a group of disorders. Other manifestations of EB include: anemia, cardiomyopathy, syndactyly (fusion of the fingers and toes), renal insufficiency, dysphagia (difficulty swallowing), malnourishment, cancer, constipation, osteoporosis, muscular dystrophy, and pyloric atresia.
Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa simplex
Hemidesmosomal Epidermolysis Bullosa
Junctional Epidermolysis Bullosa
Another rare type of Epidermolysis Bullosa is called Epidermolysis Bullosa Acquisita. It is an autoimmune disorder, which means the body attacks itself.
Good nutrition is essential for all children, but may be more difficult to achieve for a child with a chronic disease such as epidermolysis Bullosa.
Nutritional research on EB is in an early stage. However, knowledge gained from working with people with similar conditions, such as skin ulcers or burns, can be helpful for people with EB. Patients with skin ulcers or burns need increased protein and calories. Thus, a person with EB also may need to increase both calories and protein, depending on the severity of the disease. These extra nutritional demands on the body are due to tissue regeneration, fluid replacement and protein loss associated with blistering.
Attention to the nutrition of the child may be important from the beginning. Immediately after birth, fluid and protein loss, which may cause chemical imbalances, can be a major complication in recessive and some dominant types of EB. Unless the baby requires isolation for medical reasons, closeness of the mother and child should be encouraged and will help make early feedings successful. Oral or breast feedings can begin as soon as the sucking reflex is demonstrated, unless the doctor indicates otherwise. If the infant has difficulty sucking because of blisters in the mouth, use a preemie nipple (a soft nipple having holes large enough to permit milk to drop into the mouth), a rubber-tipped medicine dropper or a syringe. Powdered nutritional amplifiers, which can add calories and protein, are now available that can be mixed with mother's milk, and there are formulas that have higher than average calorie and protein concentrations. Follow the physician and/or dietitian's instructions in the use of such products and in the selection of an appropriate formula.
When the child is about six months old and pureed food has been introduced, it can be helpful to add extra liquid to the pureed food to facilitate swallowing in those who have mouth blisters. Hot drinks or foods can be irritating; if so, beverages and foods should be served lukewarm, at room temperature, or cold.
- Fluid-filled blisters on the skin, especially on the hands and feet due to friction
- Deformity or loss of fingernails and toenails
- Internal blistering, including on the vocal cords, esophagus and upper airway
- Skin thickening on the palms and the soles of the feet
- Scalp blistering, scarring and hair loss (scarring alopecia)
- Thin-appearing skin (atrophic scarring)
- Tiny white skin bumps or pimples (milia)
- Dental problems, such as tooth decay from poorly formed enamel
- Difficulty swallowing (dysphagia)
Careful wound care can help healing and prevent infection. Your doctor may recommend the following tips for treating blisters and raw skin:
- Control pain. About 30 minutes before a dressing change or other painful procedure, older children and adults may take a prescription-strength pain medication. For people who don't respond to pain relievers, other options include anti-seizure drugs such as gabapentin and pregabalin.
- Cleanse skin daily. To cleanse a wound, soak it for five to 10 minutes in a mild solution of salt and water. Other options are mild solutions of diluted vinegar or bleach. Soaking also helps reduce the pain of changing bandages. Rinse with lukewarm water.
- Puncture new blisters. This prevents them from spreading. Use a sterile needle to puncture the blister in two spots. But leave the roof of the blisters intact to allow for drainage while protecting the underlying skin.
Apply creams or lotions and cover with dressings. Use antibiotic ointment, petroleum jelly or other moisturizing substance. Then cover the area with a special nonsticking bandage (Mepilex, PolyMem, others). If you use antibiotic creams for a long time, rotate the type you use each month.
You can choose from a wide variety of dressings, based on the type of eipdermoylis bullosa you're dealing with, the size and location of the wounds, availability, and cost. You may need to hold dressings in place with rolled gauze.
- Wrap blistered hands and feet daily. With some severe forms of this condition, daily wraps help prevent deformities and fusion of the fingers and toes. Special wraps (Mepitel, others) and gauze dressings (Vaseline Petrolatum Gauze Strip, others) are useful for this treatment. Mayo Clinic
Want to learn more?
The following are organizations and/or websites dedicated to providing information and education surrounding Epidermylosis Bullosa. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
Dystrophic Epidermylosis Bullosa Research Association (DEBRA)
EB Research Foundation
Epidermolysis Bullosa Medical Research Foundation
Genetics Home Reference
National Organization for Rare Diseases
Tiny Sparrow Foundation
Information on this page taken from:
Dystrophic Epidermylosis Bullosa Research Association (DEBRA)