What is EB?
Epidermolysis bullosa (EB) is a genetic skin disorder. In healthy individuals, the outer layers of skin are connected by protein links made of creatine or collagen which prevent the skin layers from moving separately from one another. However, in people with EB disease, these links are not made properly due to protein synthesis defect. Therefore, the slightest movement with friction between two layers of skin, such as rubbing or squeezing, can lead to blisters or even dangerous wounds.
Why Are These Patients Called Butterflies?
Children with EB are called “butterfly children” since their skin is as fragile and delicate as the wings of a butterfly, and, therefore, they may suffer from water or blood blisters caused by any minor friction. With the progress of these blisters and wounds, skin tissue is gradually damaged. These children’s wounds are extremely painful, and in case of being deprived of special health care, these wounds will permeate through their internal organs and debilitate them. If these wounds are not healed properly, they can inflict irreparable damages on vital organs and even bring butterfly children a painful death.
Causes and Types of EB
Most EB sufferers inherit the disease through defective genes of their parent(s). In rare cases, a new genetic mutation with no family history can also cause the disease. EB has a variety of types, from mild to fatal, which determine the disease severity scale. In severe types, in addition to the skin surface, mucus or the internal lining of the body organs are also involved which can cause many problems for the patients such as ulcers and blisters in their eyes, mouth, throat, esophagus, anus, kidneys, bladder, heart and other body organs.
This acutely painful disease affects fifty out of every 1 million births all over the world, including all races and both sexes of men and women.
Is There Any Definite Cure for EB?
No definite cure has been found for this disease. Current treatments can only alleviate the patients’ pain and slow their wounds’ progression. Training and empowering patients’ families can also help to reduce their symptoms.
Although people with mild types of EB may not need extensive treatments, they should also prevent against blister formation and, in case of any blister, prevent against the spread of infection. People with recessive and dominant types of disease may suffer from a variety of many complications. Along with protecting and taking care of their skin and soft tissues, they also need psychological support from their carers. Patients, their parents, and their carers should not feel that they are helpless against all the complicated aspects of EB treatments. There are physicians, nurses, social workers, psychologists, nutritionists, and other support groups who can help patients and their parents in giving care and providing emotional and informational support.