Approach
The goals in treating epidermolysis bullosa (EB) patients include prevention of new lesions, enhancement of wound healing, and prevention or correction of complications, both cutaneous and extracutaneous. Consultant multi-disciplinary care is required to ensure that patients’ needs are addressed holistically.[48] A key tenet is avoidance of anything that can result in trauma to the skin or other epithelial-lined or surfaced tissues.
Dressings to prevent blisters and infection
Wound care is a fundamental focus.[48][49] Clean padded dressings or wraps are applied to those skin areas (e.g., elbows and knees) where the greatest amount of mechanical traction may occur.
Gentle daily cleansing of the skin is recommended, although surgical cleansers are unnecessary. Patients with severe generalised wounds may benefit from occasional baths or soaks in diluted chlorine-containing solutions (such as a very diluted household bleach).
Open wounds are covered with non-adherent or only weakly adherent sterile dressings. All dressings are maintained on the skin by covering them with clean or sterile tubular gauze, or some other synthetic expandable wraps or garments. A consensus report is available that summarises the variety of dressings that may be of value in the treatment of EB.[50] Dressing choices should be individualised based on EB sub-type, extent, and wound location, as well as dressing frequency, cost, and availability.
Topical antimicrobial agent
Some experts recommend first applying a topical antibacterial cream or ointment under the dressing, including those containing polymyxin B, bacitracin, and/or sulfadiazine silver, as long as there is no known allergy to any component of these preparations. Occasionally, wounds are covered instead with silver-impregnated dressings. However, prolonged use of these preparations carries a risk of promoting antibiotic resistance.
Sterile drainage of blisters
Blisters require sterile drainage to enhance healing and reduce pain.
Nutritional supplementation
Normal dietary intake should be encouraged. In severely affected children, especially those with recessive dystrophic EB (RDEB) and junctional EB (JEB), the extent of oral, oesophageal, and small intestinal disease activity may prevent intake of adequate amounts of nutrients, especially those in solid foods. Affected individuals benefit from formal dietetic reviews. Vitamin D insufficiency has been observed to be common particularly in children with RDEB, necessitating supplementation.[51] Vitamin C deficiency has also been identified.[52] Children may be given soft or pureed foods rich in nutrients and, if necessary, should receive at least partial supplementation through gastrostomy feeding tubes. If difficulties arise in sucking, due to the presence of painful blisters or erosions along the palate, then modified feeding nipples, such as those used for babies with cleft palate, may be useful. Attention should also be given to bowel habit, as affected individuals can often develop multi-factorial constipation, in part due to diet, opioid analgesia, relative immobility and diminished fluid intake.[53]
Tetracyclines
Tetracycline antibiotics (e.g., tetracycline) have been used as possible suppressive agents to reduce blister formation in patients with EB simplex (EBS).[54] Tetracycline antibiotics also have anti-inflammatory properties. They are generally used only in children >8 years of age, because earlier use may result in permanent discoloration of tooth enamel.
Topical aluminium chloride
Topical aluminium chloride may be used as an astringent to the soles and/or palms to reduce blistering secondary to hyperhidrosis in people with EBS.[55]
Lifestyle and activities
Although avoiding mechanical trauma is the basis of preventing blistering in EB, affected children and adults should be encouraged to pursue as full a lifestyle as is practical. In milder forms of EB, some sporting activities may even be possible. Formal physiotherapy, occupational therapy and speech therapy input can significantly enhance daily capabilities.[56][57] It is critical that children develop as psychologically normal as possible and consultant psychological support is frequently beneficial in supporting this.[58] Home schooling is unnecessary for most children with EB, and social interactions with peers are extremely important for the wellbeing of the child and the parents. However, many occupations involving strenuous physical activity, including military service, are not a possibility.
EB sub-types requiring special interventions
The day-to-day care of children and adults with EB is usually provided by paediatricians, dermatologists and internists. Any extracutaneous complication, including severe anaemia, growth retardation, or involvement of any of the targeted extracutaneous organs, should have prompt medical or surgical intervention. These complications usually arise in patients with severe EBS, JEB (all sub-types), and RDEB (all sub-types), and may occur as early as within the first year of life.[24][25] Meticulous surveillance for early signs of their presence is important to the overall management of this disease. Dental abnormalities, both primary and secondary, are the norm in patients with JEB and RDEB. All patients with JEB develop localised or generalised enamel hypoplasia, characterised by the presence of pitting on the surface of the teeth. Unless restorative measures are undertaken during early childhood, these teeth will develop progressive caries, with eventual loss.[59] Secondary caries and premature tooth loss are common in patients with RDEB, the result of alterations in food clearance within the oral cavity, complicated by frequent feeding. Microstomia and ankyloglossia are also common findings in patients with JEB and RDEB.[60] Psychological issues, most notably depression, often arise in children and adults with severe forms of inherited EB. Psychology referrals are important to the overall wellbeing of these individuals.[58]
Emergency or time-sensitive issues
Other complications may require more rapid intervention. Systemic infection (usually bacterial) is a complication seen usually only in neonates and infants and needs to be treated immediately. A hoarse cry or any other sign of early tracheolaryngeal stenosis (arising primarily in infants with JEB) demands immediate evaluation by an otolaryngologist.[61] If the upper airway is even partially compromised, then many EB experts recommend tracheostomy to prevent the later occurrence of sudden airway obstruction and death. Wounds that are unusual in their duration and lack of improvement, or the presence of nodules in children or adults with RDEB or JEB, merit full-thickness skin biopsy to exclude the complication of squamous cell carcinoma. If the latter is confirmed, then wide full-thickness excision is mandated.[62]
Pregnancy requires coordinated multi-disciplinary input to facilitate good outcomes for both newborns and mothers.[63]
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