Options in Treatment of Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is the most common form of the rare genetic skin disorder epidermolysis bullosa (EB), a condition that causes skin fragility and easy blistering (Figures 1-3). It is estimated that 1 of every 30,000 to 50,000 people is affected by EBS.1 Patients typically develop symptoms ranging from occasional skin blisters that are localized to the hands and feet and leave minimal scarring to more extensive and severe blistering that can begin as early as birth and occur anywhere on the body.
EBS can cause debilitating pain and there are currently no treatment options available that target disease mechanism of action. Patients with more severe forms of EBS, who are often young children, continually struggle to live with and manage their condition. Treatment strategies are primarily based on options for pain management and wound management to help reduce the risk of infection and improve quality of life. While this offers limited benefit, advances in both pain therapies as well as anti-infectives have helped to improve standard of care for some patients in recent years.
EBS is a genetic disorder, inherited in autosomal dominant pattern, although occasionally sporadic cases occur. Blistering is due to breakdown of the internal cellular structure of basal keratinocytes of the epidermis and does not extend into deeper layers of the skin. Specifically, mutations in the structural proteins lead to skin fragility. In the absence of secondary infection, there is generally no scarring and patients live a normal life span.2
As a primary course of action, lifelong efforts in wound management are essential for most patients with EBS. Different forms of wound management can help reduce the risk that blisters associated with EBS can lead to scarring, infection, and deformity. Dressings or nonstick bandages such as Mepilex and PolyMem are often used to cover up blisters and help prevent further damage to the skin.3 For most patients, dressings must be changed frequently, a process that can take several hours in some cases.
While currently available topical creams do not affect the course of disease, options that include aluminum chloride and keratolytics have been shown to slow the formation of blisters in some patients.4 Clinicians also will often puncture new blisters using a sterile needle, which can help prevent them from advancing to larger-sized blisters that can lead to painful wounds that take longer to heal.5
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