This rare genetic condition is characterized by the recurrent development of blisters with the presence of very fragile skin. This occurs when the two skin layers known as the epidermis and dermis are not held together properly and hence any small friction can create blisters or painful sores. Although this can develop among any individuals, the symptoms initially appear in the infants and the toddlers. This condition varies in severity from mild to severe with the presence of either few or many blisters. It can also develop within the body such as the mouth, esophagus, bladder, stomach and other parts.
Causes
The different types of this condition are determined by the depth of the skin involved with blistering and each type presents multiple subtypes. The main types include EB simplex, junctional EB and dystrophic EB. Some subtypes are inherited in an autosomal recessive pattern where both the parents pass the defective gene to their children and the autosomal dominant pattern is when only one defective gene is inherited. Another type includes the epidermolysis bullosa acquista which is an autoimmune condition when the body’s immune system accidentally attacks the collagen.
Symptoms
The clinical symptoms of this condition include chronic open wounds, inability to heal properly, extensive scarring and pain. The chronic wound that develops causes reduced mobility among these individuals. In some types of this condition, the internal mucosa also becomes involved which can present problems with the proper nutritional intake in children. Every time the skin becomes affected, the damage appears to cause disfigurement over the lifetime. The severe form of this condition is usually fatal among the infants. The squamous cell carcinoma is a type of skin cancer that tends to develop in these cases and is estimated to be one of the major causes of death for the recessive dystrophic epidermolysis bullosa. The treatment for this type of cancer such as radiotherapy and chemotherapy is generally not effective.
Diagnosis
This disease may be suspected when features of the skin condition become evident but various tests may be required to confirm the diagnosis. This can consist of skin biopsy where a small piece of the skin is removed to be examined and the genetic testing can confirm the condition.
Treatment
The treatment can consist of preventing the development of blisters, treating them or treating the infections that can also occur. Prevention of the blisters can include protection of the skin by avoiding getting too hot, wearing soft clothes, not scratching and application of lotion to keep the skin moist. The treatment of blisters includes safely breaking them in their early stage, using special bandages to heal and prevent the onset of infection. In the case of blister infection, the treatment can include oral antibiotics, special wound covering and a soaking solution. When the blisters develop in the mouth and the esophagus, it can present eating problems and in such cases feeding the infants with the special nipple or eyedropper may be necessary. In some cases, a surgery may be required to enlarge the narrow esophagus to ensure that food can travel in the passage effectively.
References
http://www.debra-international.org/epidermolysis-bullosa/causes-and-subtypes/deb.html
https://www.niams.nih.gov/health_info/epidermolysis_bullosa/epidermolysis_bullosa_ff.asp#c
