CHICAGO – Ask patients with recessive dystrophic epidermolysis bullosa (EB) to name their most bothersome symptom, and they’re likely to say itch, followed closely by pain, according to Jemima Mellerio, MD.

“We don’t really understand a lot about the mechanism of itch in patients with this disease, which is one of the reasons why we don’t have good treatments,” Prof. Mellerio said at the World Congress of Pediatric Dermatology.

No magic cure exists, but options to try include topical measures such as emollients, menthol, bandages, and topical steroids; antihistamines; antidepressants, such as amitriptyline and doxepin; anticonvulsants, such as gabapentin; and serotonin inhibitors, such as ondansetron. There have also been case reports of benefits with thalidomide, cyclosporine, and methotrexate, “but you need to be careful because it’s very difficult to monitor for the peripheral neuropathy that you can get with thalidomide if you have epidermolysis bullosa,” said Prof. Mellerio, a dermatologist at St. John’s Institute of Dermatology and Great Ormond Street Hospital, United Kingdom. “If you have a type of EB that predisposes you to malignancy, using cyclosporine is a concern.”

A key resource for patients with EB and clinicians who care for them is Debra International, a network of national groups working on behalf of people with EB, which is undertaking a longterm initiative to develop clinical practice guidelines for the disorder. “This has been going on for about five years and is gathering momentum,” Prof. Mellerio said. “In the EB literature, there is very little that is good quality, evidence-based medicine.” Links to existing guidelines can be accessed DEBRA website.

She shared clinical tips for managing various aspects of EB, including pain, which was the subject of a recent 23-page clinical practice guideline (BMC Med. 2014;12:178). “It’s important to take a proper history: What kind of pain is it and when do they get it?” she commented. “Is there anything that is triggering it?” Basic treatment principles are to start with simple options like acetaminophen/NSAIDs and add in weak opiates as appropriate. Go a bit stronger if necessary, titrating to get the desired effect. “If you have specialist pain services, that can be extremely useful in some of the more complex cases,” she said.

Many EB patients are plagued by neuropathic pain that burns and stings. “For these cases, you might try tricyclic antidepressants or anticonvulsants like gabapentin and pregabalin,” she noted. Anxiolytics such as midazolam can be used to reduce anxiety during procedures, bathing, and dressings. A wide range of pain formulations exist to meet patient needs or preferences, including oral tablets or suspensions, lozenges, intranasal preparations, transdermal patches and intramuscular and intravenous injections.

Topical measures for isolated, painful wounds include ibuprofen-impregnated dressings such as Biatain Ibu and topical morphine gel. “You can get this made up by using morphine sulfate and mixing it in a hydrogel,” Prof. Mellerio said. “You apply that when you have a limited number of painful wounds, so you don’t get the systemic effects from having morphine but you get the local beneficial effects.” [This approach was described in Arch Dis Child. 2004;89:679-81.] Adding salt to a bath can also ameliorate pain for patients. She recommends adding 90g of salt to 10L bath water for a 0.9% solution, which translates into about 800g salt for a half-full tub of water.

Basic skin care is another challenge for EB patients. For those with extremely fragile skin, Prof. Mellerio recommends applying a primary layer of a soft silicone or lipidocolloid dressing under a secondary dressing layer. “There’s a whole range of soft silicone foam dressings or polymeric membrane, which is a nice soft dressing that can go over a primary dressing or directly on the skin if fragility is not a problem,” she said. “Really, it comes down to patient and carer choice as to what to use. It depends on many factors including site, exudate, pain, and dressing size. The frequency of wound changes will also vary. So, if you’ve got an infected, more heavily exuding wound, the dressing changes will be more frequent.”

Critical colonization and infection are significant problems for EB patients and are ideally managed with topical antimicrobials such as hydrogen peroxide cream, enzymatic antimicrobials, polyhexamethylene biguanide, and medical grade honey. “Topical antibiotics such as mupirocin can also be used, but there are problems with resistance if you’re using it long-term and potential for sensitization,” Prof. Mellerio said. “Other options include antimicrobial dressings such as polymeric membrane, polyhexamethylene biguanide, and silver. With silver dressings, there is the potential to absorb silver, so, if you’re a child and you have a lot of wounds on your skin, you can absorb silver at significant levels, which could be a problem.”

If patients don’t respond to topical measures, consider using oral antibiotics for 10-14 days, she said. Swab first for sensitivity and to look for Streptococcal carriage “because you can get a lot of problems like renal damage,” and use IV antibiotics only for severe infections, she said. “Best Practice Guidelines for Skin and Wound Care in Epidermolysis Bullosa,” supported by an award from the Urgo Foundation and produced by Wounds International/Wounds UK, are available.

Prof. Mellerio noted that EB can also adversely affect oral health and lead to the formation of painful blisters, scarring, microstomia, and ankyloglossia, which “can contribute to difficulties eating and speaking and make it hard to keep the teeth clean.” Analgesics can be helpful, as can an NSAID mouthwash or spray or mucoprotectants like Episil that coat the surface of lesions. “Alcohol-free chlorhexidine washes and fluoride mouth washes can help, as can high fluoride toothpaste and trying to limit the consumption of sugary foods and snacks,” she said. “You can adapt things like toothbrushes with a grip, which means that it’s a bit easier for somebody with EB to be able to keep their teeth clean.”

Keeping bones strong is also a concern, since osteopenia and osteoporosis are common in EB. “We’ve seen vertebral crush fractures in children as young as five years old,” Prof. Mellerio said. “Optimize calcium and vitamin D and mobility, which is important in helping people accrue their bone mineral density throughout life. Sometimes we have to use bisphosphonate therapies, but there isn’t a great deal in the literature to support what the best way of doing this is.”

Prof. Mellerio reported having no financial disclosures.

dbrunk@frontlinemedcom.com

Many aspects to caring for epidermolysis bullosa patients