What is Epidermolysis Bullosa?
Epidermolysis bullosa is a group of skin conditions whose hallmark is blistering in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. Four main types of epidermolysis bullosa exist, with numerous subtypes. Most are inherited.
Most types of epidermolysis bullosa initially affect infants and young children, although some people with mild forms of the condition don’t develop signs and symptoms until adolescence or early adulthood. Mild forms of epidermolysis bullosa may improve with age, but severe forms may cause serious complications and can be fatal.
Once the disease are found less frequently than at present, one person in 300,000. Now, unfortunately, the disease is more dense one person in 60,000. For example in Europe there are around 25,000.
“Butterfly Children” is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly’s wings.
There’s currently no cure for epidermolysis bullosa. For now, treatment focuses on addressing the symptoms, including pain prevention, wound prevention, infection and severe itching that occurs with continuous wound healing.
Symptoms depend on the type of epidermolysis bullosa, but can include:
- Alopecia (hair loss)
- Blisters aound the eyes and nose
- Blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty
- Blisters on the skin as a result of minor injury or temperature change
- Blistering that is present at birth
- Dental problems such as tooth decay
- Hoarse cry, cough, or other breathing problems
- Milia (tiny white bumps or pimples)
- Nail loss or deformed nails
- Death (junctional epidermolysis bullosis has a high death rate, but other, milder forms may not reduce life expectancy at all)
- Esophageal stricture
- Eye disorders, including blindness
- Infection, including sepsis
- Loss of function in the hands and feet
- Muscular dystrophy
- Periodontal disease
- Severe malnutrition caused by feeding difficulty, leading to failure to thrive
- Squamous cell skin cancer
The goal of treatment is to prevent blisters from forming and complications. How much treatment is needed depends on how severe the disease is. Recommendations often include avoiding skin damage (trauma) and hot environments.
- To prevent infection take very good care of the skin, especially if any blistered areas become crusted or exposed (raw). Follow your health care provider’s instructions closely. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use.
- For swallowing difficulties, your may need to use oral steroids for short periods of time. Long-term steroids for epidermolysis bullosa is generally not recommended. If you also have candida in the mouth or esophagus, you will also need to take medication for that infection.
- Good dental hygiene is very important, including regular dental visits. It is best to see a dentist who has experience treating people with epidermolysis bullosa.
- Proper nutrition is also important. When you have a lot of skin injury, you may need extra calories and protein to help you recover. Work closely with a nutritionist. If you have blisters or complications in the mouth or esophagus, avoid eating hard or brittle foods such as pretzels, nuts, and chips. Eating soft foods can help prevent making the sores worse.
- Working with a physical therapist can help you keep the full range of motion in the joints and minimize contractures.
Skin grafting for denuded or ulcerated areas of the skin may be necessary. Other surgical procedures for complications of epidermolysis bullosa might be recommended. Such surgeries include:
- Dilation of the esophagus if there is a narrowing (stricture)
- Repair of hand deformities
- Removal of of any squamous cell carcinoma that develops
Other treatments under investigation for epidermolysis bullosa include protein and gene therapy.
Epidermolysis bullosa acquisita may be treated with oral steroids and medication that suppresses the immune system. These may, however, increase the risk of infection or damage the liver or kidneys. Studies using interferon are also under way.