Addressing the Pain: Pain Management in Epidermolysis Bullosa: An Intractable Problem
The term inherited epidermolysis bullosa (EB) refers to a group of rare genetic diseases characterized by the presence of extremely fragile skin and recurrent blister formation. Any trauma or minor friction to the skin or mucous membranes may result in blistering or tearing of the skin. It is estimated that one in every 50,000 live births is affected by some form of inherited EB.1 The four major forms of EB are EB simplex (EBS), junctional EB (JEB), dominant dystrophic EB (DDEB), and recessive dystrophic EB (RDEB).
With EB simplex, blister formation occurs in the epidermis; with junctional EB, blisters form within the lamina lucida of the basement membrane zone (the dermal-epidermal junction); and with both recessive and dominant dystrophic EB, blisters originate in the uppermost part of the dermis, just beneath the lamina densa. Genetic mutations most commonly occur in Keratin 5 and 14 (EBS), Laminin-5 and Type XVII Collagen (JEB), and Collagen VII (DDEB and RDEB).2
Routine care of EB consists of meticulous daily skin and wound care. The recommended treatment includes a rigorous routine of inspecting the skin, lancing new blisters, and applying ointments and nonstick dressings. Researchers are working to develop gene transfer techniques, but the ultimate goal of a cure through gene therapy has not yet been realized. The primary objectives of care are to promote healing, prevent infection, prevent excessive loss of body fluid, and reduce pain.
Fine3 reported the findings of a study in which 425 patients with inherited EB were sampled to assess the presence of and possible differences in cutaneous pain scores. This study reported that fewer than 10% of individuals with RDEB and 12% to 13% of individuals with EBS, JEB, and DDEB say they are pain-free. Moderate to severe pain frequency was most often noted in patients with clinically more extensive disease involvement. This study demonstrates that cutaneous pain is the norm in all major types of EB - the alarming realization is that approximately 90% of individuals with EB report experiencing pain on an average day.
Although many medications on the market treat pain, they are not without significant side effects for the patient. Due to the chronicity of the disease and the prevalence of ongoing pain in this population, a reasonable goal is to determine alternatives to the use of pain medications, which include opioids. While opioids clearly provide pain relief, many of the side effects - constipation, pruritus, tolerance, and central nervous system (CNS) depression - actually may worsen the overall condition of EB.
Infants and young children with EB present an even greater treatment challenge. Medications causing CNS depression and sedation frequently result in feeding difficulties and weight loss in the infant. Feeding difficulties in infants with EB may cause a life-threatening downward spiral, as their fluid and protein requirements are already higher due to the presence of wounds and denuded areas. Inadequate nutrition slows wound healing, decreases immunocompetence, and increases susceptibility to infection.4,5
Clearly, the cause of the pain cannot be eliminated. An attempt must be made to protect the skin from injury. This can be accomplished through gentle handling, applying lubricants to reduce friction, and using protective dressings that help prevent friction. Bandages are secured with rolled gauze and tubular retention dressings because using tape and adhesives causes further blistering and skin loss.
Numerous nonstick, protective dressings are available. One in particular (Mepilex Transfer, Mölnlycke Health Care, Newton, Pa.) is changing the quality of life for many who suffer from this devastating disease. It is made of a thin, flexible foam coated with a soft silicone contact layer (Safetac®). As the Safetac layer seals around the wound, the structure of dressing allows exudate to move into the foam, supporting a moist wound environment and minimizing the risk of maceration. A secondary absorbent dressing is required for heavily draining wounds. Although the product is mildly adherent to dry, intact skin, it is well tolerated by most people with EB. The hydophobic product floats off the skin when wet, which prevents the dressing from adhering to moist, open wounds and allows for easy, non-traumatic removal. Through protection from further friction and by establishing a wound environment optimal for healing, this product has quickly taken its place as a preferred dressing for EB care among patients in the author's service who have used it.
One infant with JEB was suffering from nonhealing, angry wounds that were worsened by the friction of her diaper (see Figure 1). Her parents had used many products to protect the areas but were not successful in achieving wound healing or comfort. After using the Safetac dressing on the infant for approximately 1 week, she experienced significant healing (see Figure 2) and (according to the parents) a decrease in her pain and irritability.
Perhaps one of the Safetac dressing's most valuable features is that it not only facilitates wound healing but also provides protection for intact fragile skin (see Figure 3). Minimizing the wound is important to diminishing the pain.
Living with EB is living with pain. Until a cure is found, patients, parents, and practitioners working with EB maintain a constant quest for alternative, successful methods of wound healing and pain control. Product is what is available today to make a difference and to bring some relief from pain for individuals with EB.
Addressing the Pain is made possible through the support of Molnlycke Health Care, Newtown, Pa.
1. Fine JD, Bauer EA, McGuire J, Moshell A. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry. Baltimore, Md.: Johns Hopkins University Press;1999.
2. Fine JD, Eady RAJ, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol. 2000;42:1051-1066.
3. Fine JD, Johnson LB, Weiner M, Suchindran C. Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol. 2004;29(2):122-127.
4. Breslow RA, Hallfrisch J, Guy DG, et al. The importance of dietary protein in healing pressure ulcers. J Am Geriatr Soc. 1993;41(4):357-362.
5. Hamilton K. Wound healing and nutrition - a review. Journal of the Australasian College of Nutritional + Environmental Medicine. 1995;14(2):15.
