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
Wound Management
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
Article continues on page 2
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Even with the best efforts in wound management, many patients develop blisters and open sores that become so painful that many simple activities such as moving and walking become difficult. For treatment of mild to moderate pain associated with EBS, clinicians and patients often turn to over-the-counter options including paracetamol or ibuprofen.5 For more severe pain, older children and adults are often treated with prescription strength pain medications. In more severe cases where patients do not respond to traditional pain medication, treatment may involve use of antiseizure drugs such as gabapentin and pregabalin.3
Patient assessments both at home and in a clinical setting must involve near-constant monitoring for formation of blisters and for signs of infection including fever, redness, crusting, pus, or watery discharge, and improper healing. In cases where wounds heal slowly or appear not to be healing, patients should be examined by the treating medical provider.6
Treatment for skin infections in EBS will often include topical administration of antiseptic or antibiotic creams or ointments, or use of silver-impregnated dressings or gels that are designed to help stimulate the healing process.4,5 Use of systemic antibiotic therapy may also be required.
Nutrition
Some patients with EBS are at nutritional risk and patient management should include a focus on proper nutrition. In younger patients with more severe forms of EBS blisters form in the mouth and oral cavity, making it difficult for patients to eat causing malnutrition and low weight.
For infants with EBS, parents can apply an oral gel to relieve pain or try feeding using nipples designed for premature infants, a syringe, or a rubber-tipped medicine dropper.5 For older children, diet can be altered to include more nutritious, soft foods that are easy to swallow, such as vegetable soup and fruit smoothies. Food and beverages should also be served lukewarm, at room temperature, or cold. Patients should also discuss use of dietary supplements to minimize nutrient and vitamin deficiencies.3
Nutritional challenges change as patients with EBS get older. One study found that more than half of adults with EBS may be overweight.2 This may be at least partially explained by blistering of feet, which decreases activity and lowers energy needs, leading to weight gain, which may further exacerbate foot blisters.
Challenges
Research is underway to try to identify treatment options for EBS that target the disease mechanism of action. While hope remains in finding a genetic cure to repair the mutated proteins, current efforts are focused on healing wounds and reducing blisters. One such effort is a topical therapy designed to block an inflammatory signaling pathway in EBS. In a clinical trial involving 17 patients with EBS, treatment was associated with an average 60% reduction in blistering after 4 weeks.7
Another challenge in treatment of EBS is lack of awareness. Although EBS is the most common form of EB, it is relatively unknown and often misunderstood by many health care providers, including both dermatologists and disease specialists. In many cases, patients with the milder form of the disease may not receive the same attention and proactive care as patients with more extreme and severe cases. Strategies in wound care, pain management, and infection surveillance are helping to improve quality of life for many patients with EBS, but many continue to experience significant daily challenges in managing their symptoms.
More research is needed to better understand the underlying cause of EBS onset and progression and to develop the safer and more effective treatment options that can advance beyond palliative care in the years ahead.
Dr Browning is board certified in pediatrics, dermatology, and pediatric dermatology. He is an assistant professor of pediatrics and dermatology at Baylor College of Medicine and at the University of Texas Health Science Center at San Antonio, and also serves as the chief of dermatology at the Children’s Hospital of San Antonio.Disclosure: The author reports no relevant financial relationships.
References
1. Epidermolysis bullosa simplex. NIH National US Library of Medicine website. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#statistics. Accessed September 20, 2017.
2. Birge K. Nutrition management of patients with epidermolysis bullosa. J Am Diet Assoc. 1995;95(5):575-579.
3. Epidermolysis bullosa: lifestyle and home remedies. Mayo Clinic website. https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/basics/lifestyle-home-remedies/con-20032497. Accessed September 20, 2017.
4. Epidermolysis bullosa simplex. NIH National Center or Translational Sciences website. https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex. Updated January 9, 2011. Accessed September 20, 2017.
5. Epidermolysis bullosa–treatment. NHS Choices website. https://www.nhs.uk/Conditions/Epidermolysis-bullosa/Pages/Treatment.aspx. Accessed September 20, 2017.
6 Wound care. Debra of America website. https://www.debra.org/supportivecare. Accessed September 20, 2017.
7. Castle Creek Pharmaceuticals announces first patient enrolled in DELIVERS study of diacerein 1% ointment for epidermolysis bullosa simplex [news release]. Parsippany, NJ: Castle Creek Pharmaceuticals; June 05, 2017. https://www.prnewswire.com/news-releases/castle-creek-pharmaceuticals-announces-first-patient-enrolled-in-delivers-study-of-diacerein-1-ointment-for-epidermolysis-bullosa-simplex-300468135.html. Accessed September 20, 2017.
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
Wound Management
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
Article continues on page 2
{{pagebreak}}
Even with the best efforts in wound management, many patients develop blisters and open sores that become so painful that many simple activities such as moving and walking become difficult. For treatment of mild to moderate pain associated with EBS, clinicians and patients often turn to over-the-counter options including paracetamol or ibuprofen.5 For more severe pain, older children and adults are often treated with prescription strength pain medications. In more severe cases where patients do not respond to traditional pain medication, treatment may involve use of antiseizure drugs such as gabapentin and pregabalin.3
Patient assessments both at home and in a clinical setting must involve near-constant monitoring for formation of blisters and for signs of infection including fever, redness, crusting, pus, or watery discharge, and improper healing. In cases where wounds heal slowly or appear not to be healing, patients should be examined by the treating medical provider.6
Treatment for skin infections in EBS will often include topical administration of antiseptic or antibiotic creams or ointments, or use of silver-impregnated dressings or gels that are designed to help stimulate the healing process.4,5 Use of systemic antibiotic therapy may also be required.
Nutrition
Some patients with EBS are at nutritional risk and patient management should include a focus on proper nutrition. In younger patients with more severe forms of EBS blisters form in the mouth and oral cavity, making it difficult for patients to eat causing malnutrition and low weight.
For infants with EBS, parents can apply an oral gel to relieve pain or try feeding using nipples designed for premature infants, a syringe, or a rubber-tipped medicine dropper.5 For older children, diet can be altered to include more nutritious, soft foods that are easy to swallow, such as vegetable soup and fruit smoothies. Food and beverages should also be served lukewarm, at room temperature, or cold. Patients should also discuss use of dietary supplements to minimize nutrient and vitamin deficiencies.3
Nutritional challenges change as patients with EBS get older. One study found that more than half of adults with EBS may be overweight.2 This may be at least partially explained by blistering of feet, which decreases activity and lowers energy needs, leading to weight gain, which may further exacerbate foot blisters.
Challenges
Research is underway to try to identify treatment options for EBS that target the disease mechanism of action. While hope remains in finding a genetic cure to repair the mutated proteins, current efforts are focused on healing wounds and reducing blisters. One such effort is a topical therapy designed to block an inflammatory signaling pathway in EBS. In a clinical trial involving 17 patients with EBS, treatment was associated with an average 60% reduction in blistering after 4 weeks.7
Another challenge in treatment of EBS is lack of awareness. Although EBS is the most common form of EB, it is relatively unknown and often misunderstood by many health care providers, including both dermatologists and disease specialists. In many cases, patients with the milder form of the disease may not receive the same attention and proactive care as patients with more extreme and severe cases. Strategies in wound care, pain management, and infection surveillance are helping to improve quality of life for many patients with EBS, but many continue to experience significant daily challenges in managing their symptoms.
More research is needed to better understand the underlying cause of EBS onset and progression and to develop the safer and more effective treatment options that can advance beyond palliative care in the years ahead.
Dr Browning is board certified in pediatrics, dermatology, and pediatric dermatology. He is an assistant professor of pediatrics and dermatology at Baylor College of Medicine and at the University of Texas Health Science Center at San Antonio, and also serves as the chief of dermatology at the Children’s Hospital of San Antonio.
Disclosure: The author reports no relevant financial relationships.
References
1. Epidermolysis bullosa simplex. NIH National US Library of Medicine website. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#statistics. Accessed September 20, 2017.
2. Birge K. Nutrition management of patients with epidermolysis bullosa. J Am Diet Assoc. 1995;95(5):575-579.
3. Epidermolysis bullosa: lifestyle and home remedies. Mayo Clinic website. https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/basics/lifestyle-home-remedies/con-20032497. Accessed September 20, 2017.
4. Epidermolysis bullosa simplex. NIH National Center or Translational Sciences website. https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex. Updated January 9, 2011. Accessed September 20, 2017.
5. Epidermolysis bullosa–treatment. NHS Choices website. https://www.nhs.uk/Conditions/Epidermolysis-bullosa/Pages/Treatment.aspx. Accessed September 20, 2017.
6 Wound care. Debra of America website. https://www.debra.org/supportivecare. Accessed September 20, 2017.
7. Castle Creek Pharmaceuticals announces first patient enrolled in DELIVERS study of diacerein 1% ointment for epidermolysis bullosa simplex [news release]. Parsippany, NJ: Castle Creek Pharmaceuticals; June 05, 2017. https://www.prnewswire.com/news-releases/castle-creek-pharmaceuticals-announces-first-patient-enrolled-in-delivers-study-of-diacerein-1-ointment-for-epidermolysis-bullosa-simplex-300468135.html. Accessed September 20, 2017.
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
Wound Management
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
Article continues on page 2
{{pagebreak}}
Even with the best efforts in wound management, many patients develop blisters and open sores that become so painful that many simple activities such as moving and walking become difficult. For treatment of mild to moderate pain associated with EBS, clinicians and patients often turn to over-the-counter options including paracetamol or ibuprofen.5 For more severe pain, older children and adults are often treated with prescription strength pain medications. In more severe cases where patients do not respond to traditional pain medication, treatment may involve use of antiseizure drugs such as gabapentin and pregabalin.3
Patient assessments both at home and in a clinical setting must involve near-constant monitoring for formation of blisters and for signs of infection including fever, redness, crusting, pus, or watery discharge, and improper healing. In cases where wounds heal slowly or appear not to be healing, patients should be examined by the treating medical provider.6
Treatment for skin infections in EBS will often include topical administration of antiseptic or antibiotic creams or ointments, or use of silver-impregnated dressings or gels that are designed to help stimulate the healing process.4,5 Use of systemic antibiotic therapy may also be required.
Nutrition
Some patients with EBS are at nutritional risk and patient management should include a focus on proper nutrition. In younger patients with more severe forms of EBS blisters form in the mouth and oral cavity, making it difficult for patients to eat causing malnutrition and low weight.
For infants with EBS, parents can apply an oral gel to relieve pain or try feeding using nipples designed for premature infants, a syringe, or a rubber-tipped medicine dropper.5 For older children, diet can be altered to include more nutritious, soft foods that are easy to swallow, such as vegetable soup and fruit smoothies. Food and beverages should also be served lukewarm, at room temperature, or cold. Patients should also discuss use of dietary supplements to minimize nutrient and vitamin deficiencies.3
Nutritional challenges change as patients with EBS get older. One study found that more than half of adults with EBS may be overweight.2 This may be at least partially explained by blistering of feet, which decreases activity and lowers energy needs, leading to weight gain, which may further exacerbate foot blisters.
Challenges
Research is underway to try to identify treatment options for EBS that target the disease mechanism of action. While hope remains in finding a genetic cure to repair the mutated proteins, current efforts are focused on healing wounds and reducing blisters. One such effort is a topical therapy designed to block an inflammatory signaling pathway in EBS. In a clinical trial involving 17 patients with EBS, treatment was associated with an average 60% reduction in blistering after 4 weeks.7
Another challenge in treatment of EBS is lack of awareness. Although EBS is the most common form of EB, it is relatively unknown and often misunderstood by many health care providers, including both dermatologists and disease specialists. In many cases, patients with the milder form of the disease may not receive the same attention and proactive care as patients with more extreme and severe cases. Strategies in wound care, pain management, and infection surveillance are helping to improve quality of life for many patients with EBS, but many continue to experience significant daily challenges in managing their symptoms.
More research is needed to better understand the underlying cause of EBS onset and progression and to develop the safer and more effective treatment options that can advance beyond palliative care in the years ahead.
Dr Browning is board certified in pediatrics, dermatology, and pediatric dermatology. He is an assistant professor of pediatrics and dermatology at Baylor College of Medicine and at the University of Texas Health Science Center at San Antonio, and also serves as the chief of dermatology at the Children’s Hospital of San Antonio.
Disclosure: The author reports no relevant financial relationships.
References
1. Epidermolysis bullosa simplex. NIH National US Library of Medicine website. https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#statistics. Accessed September 20, 2017.
2. Birge K. Nutrition management of patients with epidermolysis bullosa. J Am Diet Assoc. 1995;95(5):575-579.
3. Epidermolysis bullosa: lifestyle and home remedies. Mayo Clinic website. https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/basics/lifestyle-home-remedies/con-20032497. Accessed September 20, 2017.
4. Epidermolysis bullosa simplex. NIH National Center or Translational Sciences website. https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex. Updated January 9, 2011. Accessed September 20, 2017.
5. Epidermolysis bullosa–treatment. NHS Choices website. https://www.nhs.uk/Conditions/Epidermolysis-bullosa/Pages/Treatment.aspx. Accessed September 20, 2017.
6 Wound care. Debra of America website. https://www.debra.org/supportivecare. Accessed September 20, 2017.
7. Castle Creek Pharmaceuticals announces first patient enrolled in DELIVERS study of diacerein 1% ointment for epidermolysis bullosa simplex [news release]. Parsippany, NJ: Castle Creek Pharmaceuticals; June 05, 2017. https://www.prnewswire.com/news-releases/castle-creek-pharmaceuticals-announces-first-patient-enrolled-in-delivers-study-of-diacerein-1-ointment-for-epidermolysis-bullosa-simplex-300468135.html. Accessed September 20, 2017.
