Epidermolysis bullosa simplex is a form of the genetic illness called epidermolysis bullosa which make the skin prone to blistering. The other types of epidermolysis bullosa include Kindler syndrome, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa; all four, however, can be caused by skin friction and even minor injuries to the skin.
Who Can Get Epidermolysis Bullosa Simplex?
EB simplex runs in families and the condition affects one of the proteins or keratins that form the layers of the skin. The weakening of the keratin causes the skin to be more sensitive and prone to rupturing than normal skin even when the injury or stimulus is minor. The blistering starts when the cells are broken and separated, allowing fluid to accumulate in between those breaks. Although EB simplex is primarily a hereditary condition, there are rare cases where the affected individual has no relatives with the illness, however, it is not a contagious disease or an allergic reaction. To test for the disease, the doctor might recommend a blood test to look for specific mutations in the genes, and a skin sample may also be examined.
What are the Symptoms of Epidermolysis Bullosa Simplex?
The blistering usually appears on the soles, palms, and mouth especially during warm or humid weather. The mildest form of EB simples is called Weber-Cockayne, while there is also a more severe form of EB simplex called Dowling-Meara in which the blisters appear randomly on other parts of the body regardless of the weather conditions. The blisters can be painful and will affect the life of the person, especially active children. The more severe form usually begins to manifest after the child is born and will most likely recur, although Dowling-Meara will improve when the child is older. The blisters do not leave scars even if they form in clusters, but there might be residual pigmentation on the sites. Unfortunately, most of those with the condition will continue to suffer from the blistering for the rest of their lives.
What are the Treatments for Epidermolysis Bullosa Simplex?
The goal of the treatment will focus on the healing and prevention of the blisters and the prevention of infection on the blisters. Unfortunately, there is no cure for EB simplex, that is why the affected individual must take care of his/her skin to prevent if from further damage and to monitor the healing of blisters closely. To treat the blisters, the doctor might recommend topical antibiotics or systemic antibiotics, but for those with Dowling-Meara, cyproheptadine is prescribed. Gene therapy and protein therapy are still in clinical trials, but the family might also opt for these. If there is a thickening of the skin, the doctor will recommend softening agents and keratolytics, as well as physical therapy among children if the movements are affected by the blistering and skin thickening.