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Journal of the Dermatology Nurses' Association:
doi: 10.1097/JDN.0b013e31828866fa
Feature Articles

Recommendations for a Comprehensive Management Plan for the Child Diagnosed With Epidermolysis Bullosa

Badger, Kellie S.; O’Haver, Judith; Price, Harper

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Author Information

Kellie S. Badger, BS, RN, Phoenix Children’s Hospital, Arizona.

Judith O’Haver, PhD, RN, CPNP-PC, Phoenix Children’s Hospital, Arizona.

Harper Price, MD, FAAD, FAAP, Phoenix Children’s Hospital, Arizona.

The authors declare no conflicts of interest.

Correspondence concerning this article should be addressed to Kellie S. Badger, BS, RN, Phoenix Children’s Hospital, 1919 E. Thomas Rd., Phoenix, AZ 85016. E-mail: kbadger@phoenixchildrens.com

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Abstract

ABSTRACT: Epidermolysis bullosa (EB) is a rare genetic disorder that manifests by producing blisters on the skin. To date, this condition is incurable. The classification of EB has been divided into four major forms with numerous subtypes. The subtype of EB often predicts the prognosis of each individual. All children will require management of their condition to prevent complications, which may include infection and scarring. Children with this diagnosis are best managed by a multidisciplinary team designed to specifically meet the needs of a child with EB. However, the lack of specialty clinics in many areas necessitates that parents advocate for their child(ren) and have a comprehensive treatment plan in place. Nurses can assist families in understanding the diagnosis and coordinating the needs of the affected child. The purposes of this article are to discuss the challenges of caring for a child with EB and to review the components of a comprehensive care plan to be instituted by the primary caregivers for the child living with EB.

Epidermolysis bullosa (EB) is a rare (1 in 50,000) genetic skin disorder that causes skin fragility and blistering resultant from a mutation in one of several genes responsible for skin adherence (Schober-Flores, 2009). All forms of EB result in various extents of skin fragility and blistering because of friction, heat, or trauma (Tidman, Mellerio, & Pope, 2011; Figure 1). The four major types are simplex, junctional, dystrophic, and mixed or Kindler syndrome (Table 1). These types are classified according to level of skin involvement. The mildest form, EB simplex (EBS) is generally nonscarring because the level of skin involvement is more superficial when compared with other more severe types; however, scarring can result from infection. Blistering often presents at birth or shortly thereafter. Wounds in EBS may be chronic, but they tend to lessen in severity with age in many cases (Wright, 2011). In contrast, those with the rare junctional EB type have a more severe phenotype characterized by absent nails, dysplastic teeth, oral lesions as well as esophageal and tracheal involvement (Wright, 2011). Dystrophic EB is among the most disfiguring of the EB types. As with the other forms of EB, this also presents at birth but distinguishes itself by producing scarring and contractures. Dystrophic EB is further classified into two subtypes according to the inheritance pattern, which may be autosomal dominant or recessive. Generally, the dominant form is less severe, although there is evidence suggesting further variations, including a more severe dominant form and less severe recessive form (Tidman et al., 2011). Dominant dystrophic EB is the more common subtype with patients developing bullae over the limbs, trunk, and bony prominences (Tidman et al., 2011). Recessive dystrophic EB is characterized by widespread blistering and erosions involving both skin and mucous membranes. These erosions eventually lead to extensive scarring and mitten-like deformities of the hands and feet. Both types of dystrophic EB may have gastrointestinal (GI) involvement leading to esophageal and anal strictures. The risk of developing aggressive squamous cell carcinoma (SCC) is significantly increased in those patients with the recessive subtype and is one of the major causes of mortality (Tidman et al., 2011). Mixed EB, also known as Kindler syndrome, is a rare form of EB. It is inherited in an autosomal recessive pattern and characterized by poikiloderma, photosensitivity, and skin fragility. Infants born with this type of EB often present with acral blistering. Although the tendency for skin blistering may improve with age, atrophic scarring and poikiloderma tend to be progressive (Tidman et al., 2011).

Table 1
Table 1
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Figure 1
Figure 1
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Because of the extensive time and expertise required to care for children with EB, it is necessary that caregivers coordinate a plan with the child’s medical team. This plan should include but is not limited to ordering dressing supplies, scheduling clinic appointments, and making appropriate referrals. Regular clinic appointments involve the multidisciplinary team including a dermatologist with experience or expertise in EB (usually a pediatric dermatologist) as well as physicians and/or specialists in gastroenterology, nutrition, dentistry, hematology, hand or plastic surgery, orthopedics, ophthalmology, social services, pain management, and physical and occupational therapy. Families with children diagnosed with EB should be directed to a case manager or EB nurse so that they receive the appropriate medical supplies and follow-up care from a dermatologist.

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MAKING AND EXPLAINING THE DIAGNOSIS

Discovering that their child is born with blisters or absent skin can be a frightening experience for parents and families. According to Dystrophic EB Research Association (DebRA), EB is known as “the worst disease you never heard of,” most nurses and pediatricians are unfamiliar with this disease. When a child is born with blisters or absent skin, he or she should be transferred to the neonatal intensive care unit for a complete evaluation. If EB is suspected, it is imperative that the neonatal team or pediatrician consults with the nearest EB center to properly diagnose and care for the newborn. The diagnosis is often confirmed with a biopsy of an induced and intact blister sent for immunofluorescence mapping as well as electron microscopy. This testing is limited to select specialty laboratories and/or universities. Clinical presentation may offer a preliminary diagnosis, but tissue studies may be inconclusive requiring genetic testing to confirm the exact diagnosis. Genetic testing is also limited to specialized laboratories and, often times, is not covered by insurance because of the high cost of such tests. Although the newborn is still hospitalized, teaching the family appropriate wound care is a crucial part in preparing the family for discharge. The parent(s) must be able to show the appropriate process for dressing changes. Supplies should be ordered and delivered to the home before discharge. Once the child is discharged home, it is necessary that the child is referred to a dermatologist or a pediatrician who is well educated and experienced in the diagnosis of EB. Although the treatment plan is similar for most types of EB, knowing the exact subtype of EB will help predict the child’s prognosis, further complications, and screening tests that may be helpful. Confirming the diagnosis of EB can create a lot of stress and anxiety for the family, especially when the parents fully understand the disease process and the enormity of the care that will be involved. Providing appropriate education and resources can help reduce the level of stress and anxiety that these parents and families experience.

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INFECTION/WOUND CARE

Infection is a recurrent concern and reality for patients with EB because of loss of skin integrity inherent in the disease caused by the presence of open wounds. Because of skin barrier disruption, most individuals with EB become colonized over time with bacteria. Infection may occur when bacteria reach colony counts of 1,000,000 causing delayed wound healing (Gardner & Frantz, 2004). Symptoms of infection may include a dark red appearance, swelling, tenderness to touch, increased pain, surrounding erythema, and increased drainage from the wound bed. The drainage may appear as yellow or green in color and may have a strong malodor (Schober-Flores, 2009). However, even when the abnormal appearance and malodor are present, it does not always indicate active infection (Gardner & Frantz, 2004). Malodor may be caused by specific types of dressings or even bacterial colonization. The most common bacteria found in the wounds of patients with EB are Staphylococcus aureus and Pseudomonas aeruginosa, which contribute to delayed wound healing (Lara-Corrales, Arbuckle, Zarinehbaf, & Pope, 2010). Because management and prevention of infection is a constant concern, especially in the recessive subtype, dilute bleach baths can be very beneficial in helping to prevent and treat bacterial overgrowth (Schober-Flores, 2009). According to DebRA, the recommendation for bleach baths is 1/4 cup of household bleach in a half-full bathtub of water or 1–2 teaspoons per gallon of water. The bleach–water solution should be mixed before coming in contact with the skin. Although there are no specific guidelines, most EB clinicians recommend soaking for approximately 10 minutes 2–3 times per week or, if active infection is present, with each dressing change. To prevent itching, it is important to rinse the skin with fresh water after soaking in bleach water. Pool salts anecdotally have been implicated to alleviate potential stinging and itching associated with the use of bleach in the bath water. Pool salts can be used in conjunction with bleach water to create an isotonic solution. To date, there have been no studies reported that compared these methods for patients with wounds of any type. Lindfors (2004) reported that, in her sample, patients who were treated with normal saline alone showed an increase in aerobic bioburden levels as compared with the patients treated with an antimicrobial wound cleanser consisting of 0.057% sodium hypochlorite in an isotonic saline solution. In addition, those patients treated with the antimicrobial solution exhibited a greater reduction in wound size when compared with the patients treated with saline alone. This finding suggests that wound healing is potentiated with the use of the antimicrobial wound cleanser. The paucity of studies in this area, however, limits the generalizability of this finding to this population.

While caring for someone with EB and performing dressing changes, it is important to assess not only the wound but also the surrounding tissue. The components of a nursing assessment should include monitoring for characteristics of infection such as erythema, malodor, increased pain, or increased drainage and for improvement in the wound (Table 2). Close attention should be directed at the amount of moisture present in the wound bed. If the tissue appears white or “macerated,” there may be too much moisture because of drainage, the amount of topical ointments applied may be too excessive, or inappropriate dressing materials have been used. In contrast, if the wound and surrounding tissue appears pink and healthy, then the correct moisture level has been achieved. Choosing the correct dressing product is crucial in promoting wound healing (Schober-Flores, 1999). Whereas some products are designed to provide moisture, others are designed to reduce it. It is important to understand what each product is designed for before using it on affected skin.

Table 2
Table 2
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PAIN CONTROL/ITCHING

A study reported by Fine, Johnson, Weiner, and Suchindran (2004) assessed activities of daily living, mobility, and pain in different subtypes of EB. Fine and colleagues explained that cutaneous pain is a common occurrence in the more severe types of EB regardless of patient age. This report also identified that all major types of EB required at least partial dependency on caregivers especially in such activities as walking and personal hygiene (Fine et al., 2004). Controlling the pain associated with chronic wounds and daily dressing changes can be a very difficult challenge. Parents should be mindful of the pain involved with recurrent blistering and infection. For some of the more severe forms of EB, analgesics or opiates may be required for dressing changes. Also, a nighttime dose of amitryptyline may prove to be beneficial for some patients as this has been indicated for chronic pain. Because patients with EB experience pain daily, it is imperative that caregivers as well as the medical team be aware of the most appropriate interventions to help reduce the amount of pain these individuals experience on a daily basis. It has been postulated that adequate pain interventions can be significantly beneficial in patients’ coping strategies with this disease (Fine et al., 2004).

Regardless of the EB type, itching or pruritus is a daily challenge for EB patients. Factors such as open wounds, healing wounds, bacterial colonization, or infection can all be cause for pruritus. Interventions such as a nighttime dose of doxepin may be helpful in treating pruritus.

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MALNUTRITION

Most feeding issues arise from blistering and erosions within the GI tract. Large amounts of protein, blood, and fluids are lost from open wounds on the skin as well as in the GI tract. In addition, the chronic and/or extensive open wounds result in an increased demand for protein for wound healing to occur. Patients with involvement of the digestive tract may develop dysphagia and constipation, secondary to scarring and strictures of mucous membranes. Because of chronic wound development and healing, inflammation, and GI involvement, suboptimal nutrition commonly results in the delay of growth and development. It is estimated that two to four times the normal calories and protein are needed to heal wounds and prevent iron deficiency anemia as well as allow for normal growth and development to occur (Schober-Flores, 1999). Supplements can be very helpful in maintaining the nutritional needs of children with EB. Examples of these supplements may include Pediasure, Ensure, and Nutren. Iron supplementation may also be required if severe anemia occurs. Given the diet restriction and pain associated with this diagnosis, consulting a nutritionist is helpful.

When an infant is born and diagnosed with EB, blisters in the mouth may make eating very painful; therefore, a Haberman Feeder can be helpful for infants who have blisters or erosions in the mouth. The nipple contains a disk insert and valve that helps control the flow of liquid and also reduces the amount of air the child may swallow.

For older children with EB, eating can be particularly difficult. Allowing the children to experiment with different foods will allow them the opportunity to have some control over their disease. Patients should be encouraged to eat soft or pureed foods and avoid extreme temperatures and spicy foods. Foods that are served at room temperature and nonacidic are easier to swallow. Because the entire GI tract may be affected and the esophagus may be eroded with blisters, esophageal strictures may result. As this can cause painful and difficult swallowing, dilatations or surgical interventions may be required such as placing a permanent gastrostomy tube to ensure proper nutrition.

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CONSTIPATION

The need for iron supplementation and pain medication, along with a diet low in fiber and fluids, may contribute to constipation in the patient diagnosed with EB. Constipation may also be a result from anal ulcerations and the pain associated with passing stool near an open wound. Because of this, children may withhold from having a bowel movement to avoid the pain. To help alleviate the problems of constipation, a stool softener or increased fiber intake may be beneficial (Schober-Flores, 1999). As with the use of all supplements or medications, the patient should be followed closely by a gastroenterologist and a licensed nutritionist, as they are often part of the multidisciplinary team of the EB clinics.

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SQUAMOUS CELL CARCINOMA

Recurrent, painful, or abnormal-appearing nonhealing wounds are reason to be concerned for Squamous Cell Carcinoma (SCC). As dystrophic EB patients tend to have more severe and nonhealing wounds, they are at greater risk of developing SCCs in comparison with other EB types (Pourreyron et al., 2007). SCCs tend to be aggressive in EB patients and may present with multiple foci or metastatic disease requiring the expertise of an experienced surgeon and oncologist for treatment. However, regardless of the type of EB, routine full-body skin examinations are highly recommended. According to Venugopal and Murrell (2010), full-body skin examinations should be every 3–6 months from ages 10–16 years and every 3 months from age 16 years and up and can be more frequent if warranted. Family members or primary caregivers are encouraged to pay close attention to wounds that have been present for at least 1 month with no improvement. If there is concern for a nonhealing wound, this should be reported to the patient’s provider. The use of serial photographs for wounds may be helpful to both the patient and the dermatologist.

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Managing a Home Care Plan

Children with EB have extensive needs, and to achieve those needs, parents must work closely with the pediatrician, dermatologist, or if possible, the entire multidisciplinary EB team. Patient education should extend to all of the child’s caregivers to provide the best quality of life and outcomes for the child, whereas goals of therapy should allow for as normal a life as possible. Although the treatment plan is similar among most types of EB, the individual child’s needs may vary. For example, a child with EBS may live independently as an adult, but a child with recessive dystrophic will likely require dependence on a caregiver throughout his or her life. An article published in 2004 by Fine et al. confirmed that some level of supervision is needed one or more times per day for most children with severe types of EB. Caring for a child with EB can be extremely stressful, but with proper education, sufficient supplies, familial support, and a daily care plan, the challenges of EB can be minimized.

With time, each family will begin to develop a plan that works best for their child(ren) as each child has unique needs. For example, a dressing that works for one child may not be the best choice for another child. Most parents find it helpful to talk with other EB parents as they have experience first hand, and because EB is so rare, parents may find it helpful to join local or national support groups.

Despite the long hours of wound care and frequent doctor appointments, these children also need to experience life as any other child without EB would. The psychosocial development of children is equally as important as physical development; therefore, play time and limit setting should be consistent and appropriate for the developmental level of the child.

Because most of these children attend school, the need for an individualized education plan (IEP) is necessary to maintain as normal an education experience as possible. An IEP allows the child to receive the proper education while addressing the individual’s special needs. An IEP would also allow the child to have a personal aid if necessary and/or accommodate more time between classes at school.

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Dressing Changes

Dressing changes are one of the main challenges facing those with EB, particularly for the more severe forms of EB. Being well prepared for dressing changes will make the process much easier, faster, less painful, and less stressful for both the parent and child. When ordering supplies, it is best to plan ahead as it may take up to a week to receive supplies. Dressing supplies need to be ordered from a wound supply company often depending on the patient’s insurance plan. Supplies are delivered on a monthly basis. Dressing changes can be exhausting for both parent and child as daily wound care regimens may take 2–3 hours or longer for some individuals. Whether the dressing change is accomplished in the morning or evening, it is best to have a routine. Over time, this routine will become easier and the parent(s) will become more confident with each dressing change. As EB children are susceptible to infection, having a clean area to perform the dressing change should always be a priority. Initially, all of the supplies should be opened and prepared before removing soiled dressings. If the child is old enough to soak in a bathtub alone, then the parent can prepare the dressing materials during this time. This prevents the child’s skin from being exposed and unprotected for longer than necessary. In addition, during the bathing routine, bleach baths are useful in helping to prevent infection; however, this should be directed by a physician. Because the time and energy involved in dressing changes is strenuous, allowing other family members or close friends to learn the process may help ease the burden of the primary caregiver. Table 3 lists useful supplies when performing dressing changes. Dressing changes generally require three layers of protection. The contact layer consists of products that are nonadhesive. If any product sticks to the skin, it will likely tear the skin. The second layer is a gauze wrap, which holds the contact layer in place. Lastly, the third layer such as Surgilast or Xspan is used to keep the gauze secure and provides added protection. Topical antibiotic use is recommended in short intervals depending on the wound and is often suggested as an alternative to oral agents because of the concern for resistance in pathogens to antibiotic therapy. As with all antibiotic use, whether over the counter or prescription, this should be directed by a physician. Prescription agents generally have better coverage for skin pathogens and have generally been tolerated well but require an order by a provider or physician. If an infection is suspected and has not improved within 2–3 days of using a topical antibiotic, it is recommended that the patient consult with his or her physician.

Table 3
Table 3
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RESOURCES

Caring for a child with EB carries an abundance of daily challenges. DebRA has been helping children with EB for over 30 years by providing various resources, emergency wound supplies, and a nurse educator who is available to answer questions. The diagnosis of EB inevitably carries a financial burden. An abundance of dressing supplies is required for the severe forms of EB and is very costly. Insurance companies vary on wound supply coverage. However, if a patient’s medical insurance results in limited coverage, there are organizations available to help with the cost of these necessary items. DebRA has developed programs such as the New Family Advocate Program, which provides products and information to families who have a newborn with EB. Also, the DebRA Wound Care Clearing House provides wound care and bandage supplies to families free of charge. In fact, up to $100,000 worth of supplies are provided to families each year. DebRA also has a family crisis fund, which helps families with unreimbursed medical expenses. Currently, the maximum amount allotted for each family is $1,200 per year. As part of the dressing change regimen, a lubricant such as Aquaphor may be used as an emollient to prevent dressings from adhering to healing skin. Beiersdorf, the manufacturer of Aquaphor, provides a program that offers a free supply of Aquaphor to those with EB. Vaseline (petrolatum jelly) is also a common emollient used with dressings. It is affordable and easy to access. Although there are many home health supply companies that can provide the wound care supplies needed for these children, National Rehab, Hollister Wound Care, Edgepark, and Direct Medical are a few corporations who have a special interest in developing new products for EB and helping families obtain needed supplies. National Rehab supports DebRA’s mission and has developed a program to support the EB community, including a Web site dedicated for EB families. This Web site, www.ebnurse.org, allows families to access current articles, post questions to the EB nurse, learn tips from other EB families, and become educated about the needs of children and families with EB. Information about pertinent clinical trials is also available on this site (Table 4).

Table 4
Table 4
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EB families and researchers are both focused on finding a cure for EB. Stem cell transplant, gene transfer therapy, and improvements in wound care management are largely studied topics in EB research. A general resource for all clinical trials is www.clinicaltrials.gov, which provides an up-to-date list of completed and active clinical trials for EB (Table 4).

To date, there are four major multidisciplinary EB clinics in the United States: Cincinnati Children’s Hospital, Children’s Hospital Colorado, Lucille Packard Children’s Hospital, and Phoenix Children’s Hospital. These specialty clinics are composed of multidisciplinary teams including pediatric dermatologists, nutritionists, ophthalmologists, physical and occupational therapists, hand/plastic surgeons, gastroenterologists, dermatology nurses, and social workers. Pediatric dentists trained in treating children with EB may also be called to consult on related oral conditions and dental health in these children. In addition, having a general pediatrician as part of the multidisciplinary team to help manage the care for these children benefits the entire team, including the children. Because there are only four major specialty centers in the country, it may be geographically difficult for some families to attend a clinic on a regular basis. It is imperative although, at some point, for children with EB to be evaluated and followed by an EB specialty clinic to ensure that the care requirements are met and families are aware of available resources.

Because of the complexity of the more severe forms of EB, these children spend much of their time doing dressing changes or attending doctor appointments. These children do not always have the same opportunities as other children without EB. Patients with EB will never feel “normal.” Their skin does not look normal, and they often cannot participate in the same activities as unaffected children. Fortunately, various camps and programs have been created for those with genetic skin diseases such as EB. These specialty camps allow children to be surrounded by others who share the same feelings, worries, and daily struggles of having a genetic skin disease. For example, Camp Discovery, supported by the American Academy of Dermatology, is a week-long camp for children with chronic skin conditions such as EB. At Camp Discovery, children have the opportunity to create new friendships and participate in activities such as fishing, swimming, boating, and arts and crafts. In addition, Camp Wonder, sponsored by the Children’s Skin Disease Foundation, offers children with serious and fatal skin conditions the chance to participate in activities with other children who have similar skin conditions. The advantage to campers is that their medical and social needs are met during the time at camp and it is an ideal setting to address the feelings of isolation because of the restrictions required by their skin condition.

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NURSING IMPLICATIONS

According to Schober-Flores (2003), the greatest challenges in caring for a child with EB, regardless of type, include wound care, nutrition, education, and social support. Because there are numerous complications associated with EB, parents must pay careful attention to all potential complications, which may include infection, pain, malnutrition, and development of SCC. They are strongly encouraged to report any changes to the pediatrician or dermatologist. Not only are there physical complications but social issues as well. The nurse can assist families in understanding the implications of the diagnosis as well as developing a workable home plan to include both dressing changes and management of potential complications. Psychological support is very important for children with EB throughout their lifetime but especially when they reach school age, and as EB affects the entire family, this support is equally important. The nurse can also work in conjunction with other care providers and schools to ensure respite for parents and to achieve maximum psychosocial development.

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CONCLUSION

The challenges associated with EB are physically, emotionally, and financially taxing. Through educating EB families and providing the necessary resources, EB children and their families can be afforded as normal a life as possible to reach their maximum potential. The chronicity and complexity of the needs of children with EB require a multidisciplinary approach in which nurses can provide families with the support they require to be successful in the management of their child’s care.

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REFERENCES

Das B., Sahoo S. (2004). Dystrophic epidermolysis bullosa. Journal of Perinatology, 24, 41–47. doi: 10.1038/sj.jp.7211019.

Fine J.-D., Johnson L.B., Weiner M., Suchindran C. (2004). Assessment of mobility, activities, and pain in different subtypes of epidermolysis bullosa. Clinical and Experimental Dermatology, 29, 122–127.

Gardner S., Frantz R. (2004). Wound bioburden. In Baranoski S., Ayello E. (Eds.), Wound care essentials: Practice principles (pp. 91–116). Philadelphia, PA: Lippincott Williams & Wilkins.

Lara-Corrales I., Arbuckle A., Zarinehbaf S., Pope E. (2010). Principles of would care in patients with epidermolysis bullosa. Pediatric Dermatology, 27 (3), 329–337. doi: 10.1038/sj.jid.5700878.

Lindfors J. (2004). A comparison of an antimicrobial wound cleanser to normal saline in reduction of bioburden and its effect on wound healing. Ostomy Wound Management, 50 (8), 28–41.

Pourreyron C., Cox G., Mao X., Volz A., Baksh N., Wong T., South A. P. (2007). Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. Journal of Investigative Dermatology, 127, 2438–2444. doi: 10.1038/sj.jid.5700878.

Schober-Flores C. (1999). Epidermolysis bullosa: Nursing perspective. Dermatology Nursing, 11 (4), 243–256S.

Schober-Flores C. (2003). Epidermolysis bullosa: The challenges of wound care. Dermatology Nursing, 15 (2), 135–144.

Schober-Flores C. (2009). Epidermolysis bullosa—Wound care pearls for the noninfected and infected wound. Journal of Dermatology Nurses’ Association, 1 (1), 21–29.

Tidman M. J., Mellerio J. E., Pope E. (2011). In Schachner L., Hansen R. (Eds.), Pediatric dermatology (pp. 952–965). New York, NY: Mosby/Elsevier.

Venugopal S., Murrell D. (2010). Treatment of skin cancers in epidermolysis bullosa. Dermatology Clinic, 28, 283–287. doi: 10.1016/j.det.2010.01.009.

Wright, T. (2011). Epidermolysis bullosa. Retrieved from http://www.uptodate.com/contents/the-genodermatoses

Keywords:

Dystrophic Epidermolyis Bullosa Research Association (DebRA); Epidermolysis Bullosa; Pediatric Dermatologist; Skin Fragility

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