Diagnosis and Treatment of Epidermolysis Bullosa

Epidermolysis bullosa refers to a group of genetic conditions, which make the skin of the patient very fragile and prone to swelling and blisters. The condition is usually seen among children and young adults and can lead to many serious complications, such as contractures, sepsis, and skin cancer, if not treated in time. The common symptoms of epidermolysis bullosa include blisters on the hands and feet, fragile skin, pimples or scars on different parts of the body, sores inside the mouth, itchiness, and pain, etc. As the symptoms might vary from one person to another, it is recommended to see a doctor at the nearest community healthcare center as soon as any signs of epidermolysis bullosa are noticed.

The doctor might suggest a few laboratory tests to diagnose the condition. The most commonly recommended tests include:

  • Skin biopsy: This is done to test immunofluorescent mapping. It includes taking a small sample of the affected skin and examining it under a microscope and reflected light. This helps to identify the layer(s) of skin affected by the condition. Skin biopsy also allows the doctor to see if the proteins that are essential for skin growth are functioning properly.
  • Genetic testing: This is done to confirm the primary diagnosis of the condition. Most forms of epidermolysis bullosa are passed on to the children by their parents. So checking for genetic factors also allows the doctor to understand the root cause of the condition. Sometimes, prenatal testing might also be recommended in case the family has a history of epidermolysis bullosa.

Treatment Options for Epidermolysis Bullosa

Experts at community healthcare centers usually recommend a few lifestyle changes and home care to control the symptoms of epidermolysis bullosa. However, if that does not offer any relief from the condition, the doctor might prescribe some medications to reduce its complications. Generally, medications are prescribed to deal with the pain, inflammation, and itchiness of the skin. In severe cases, the doctor might also prescribe oral antibiotics to relieve the signs of a widespread infection, such as fever, fatigue, and swollen lymph glands. 

If none of the medications helps to provide relief from the symptoms or if the condition progresses despite following the treatment plan, the doctor might suggest surgery to control the complications of epidermolysis bullosa. The common surgical treatment options for the condition include:

  • Widening the esophagus: This procedure is done when scars and blisters form inside the esophagus. This would not only make it difficult to swallow food but also narrow the esophagus down and lead to nutritional problems in the affected child. Surgical dilation of the esophagus helps to provide relief from this and makes it easier for the food to pass down from the throat to the stomach. 
  • Placing a feeding tube: This procedure is also aimed at addressing the problems that arise due to scarring and blistering inside the esophagus. The surgical procedure includes implanting a gastrostomy tube to deliver the food directly to the stomach.
  • Skin grafting: This procedure is recommended when the scarring is very severe and has led to a condition where the child is unable to move his/her hand or feet normally. It is done to control the symptoms of the skin thickening as well as avoid contractures. If the condition has already caused abnormal bending of the joints or fusing of the toes or fingers, then the doctor might suggest surgery to restore mobility as well.

In most of the cases, doctors at community healthcare centers also recommend rehabilitation therapy (physiotherapy and/or occupational therapy) to ease the symptoms of the condition, especially if the scarring and blistering have affected normal motion. In addition, some experts say that advanced procedures, such as gene therapy, stem cell transplantation, protein replacement, and cell-based therapy, can also help to relieve the symptoms of epidermolysis bullosa.

Caring for Blisters

Healthcare providers would also help you to understand how you can care for the existing blisters at home as well as prevent the onset of more blisters. You should learn how to safely break and drain the blisters before they become too big. The doctor might also suggest a few skincare products that would help to keep the affected area moist and would be beneficial to promote healing and prevent further infection. Besides, you should also take the following steps to care for blisters.

  • Wash your hands before touching the blisters and/or prior to changing the dressings.
  • Take the prescribed pain relievers to control pain about half an hour before changing the dressings or as recommended.
  • Cleanse the affected area every day with a mild solution of salt or vinegar and lukewarm water.
  • Puncture and drain new blisters with a sterile needle as soon as you notice them stop them from spreading.
  • Apply treated dressings as recommended by the healthcare provider.
  • Keep your skin cool to avoid further complications and growth of blisters.
  • Maintain a nutritious diet.
  • Consult with a doctor if you notice any signs of infection, such as redness, pus, or a red line leading from the blisters.