Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.

BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this manuscript is to present the first consensus guidelines for the diagnosis and management of anemia in EB. RESULTS: Due to the lack of high-quality evidence, a consensus methodology was followed. An initial survey exploring patient preferences, concerns and symptoms related to anemia was sent to EB patients and their family members. A second survey was distributed to EB experts and focused on screening, diagnosis, monitoring and management of anemia in the different types of EB. Information from these surveys was collated and used by the panel to generate 26 consensus statements. Consensus statements were sent to healthcare providers that care for EB patients through EB-Clinet. Statements that received more than 70% approval (completely agree/agree) were adopted. CONCLUSIONS: The end result was a series of 6 recommendations which include 20 statements that will help guide management of anemia in EB patients. In patients with moderate to severe forms of EB, the minimum desirable level of Hb is 100 g/L. Treatment should be individualized. Dietary measures should be offered as part of management of anemia in all EB patients, oral iron supplementation should be used for mild anemia; while iron infusion is reserved for moderate to severe anemia, if Hb levels of > 80-100 g/L (8-10 g/dL) and symptomatic; and transfusion should be administered if Hb is < 80 g/L (8 g/dL) in adults and < 60 g/L (6 g/dL) in children.

The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review.

BACKGROUND: Epidermolysis bullosa (EB) is an inherited genodermatosis that results in mucocutaneous fragility. There is a lack of data on the impact of this disease on parents. There are no studies on the impact on siblings and few on healthcare professionals in dealing with this devastating disease. METHODS: A scoping review was performed using the Arksey and O'Malley and PRISMA-ScR framework. Twenty-seven articles were reviewed, and a data-charting sheet was formulated. RESULTS: Parents make great sacrifices and are resilient in caring for their sick children but are at risk of depression. Siblings play a vital role in caring for their siblings, but their needs may be overlooked because the main focus is on the sibling with EB. Healthcare professionals may suffer burnout and compassion fatigue in caring for patients and their families with EB. CONCLUSION: Comprehensive care of the family and the awareness of the challenges experienced by healthcare professionals is essential to the holistic care of a patient with EB.

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc (3 mg·kg-1 ·day-1 ) for the AE resulted in rapid amelioration of the skin findings. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics-guided treatment.

Nutritional outcomes in children with epidermolysis bullosa: long-term follow-up.

BACKGROUND: some types of epidermolysis bullosa (EB) have extracutaneous manifestations. Manifestations that limit food intake and absorption may compromise nutritional status and increasing nutritional requirements. OBJECTIVES: to investigate the following nutritional status indicators: exclusive breastfeeding duration, problems caused by the introduction of complementary foods, birth weight and length, and growth curves of children with EB. METHODS: assessment was based on the World Health Organization (WHO) growth charts. The anthropometric data were stored in the WHO's programs Anthro and Anthro Plus. RESULTS: three and seven of the ten study children had EB simplex (EBS) and recessive dystrophic EB (RDEB), respectively. Four of the children with RDEB had problems when complementary foods were introduced. The difference between the chronological age and age-for-height at the 25th (A/H 25th) percentile (p) varied from four months to four years and two months. Most children with RDEB (85%) had weight-for-age (W/A) curve below p3 and low height-for-age (H/A), starting before age four years. One child with EBS had excess weight. CONCLUSIONS: anthropometric birth data, exclusive breastfeeding duration, and problems caused by the introduction of complementary foods are useful information for establishing the nutritional profile of children with EB. Supposedly, breastfeeding and no complementary feeding problems were not enough to prevent inadequate nutritional status, observed in the majority of the study children. The original presentation of the growth curves of children with EB may help to determine nutritional involvement and to establish how these children grow. The evaluation of growth curves with WHO as a standard suggests the need to establish growth curves adapted to the most serious type of EB and the need for permanent nutritional monitoring.

Evaluation of Treatments for Pruritus in Epidermolysis Bullosa.

Pruritus is a common complication in patients with epidermolysis bullosa (EB). There is limited published data about the treatments that individuals with EB use for pruritus. The objective of the current study was to determine quantitatively which treatments individuals with EB have used for pruritus and to evaluate the perceived effectiveness of these treatments in pruritus relief. A questionnaire was developed to evaluate the treatments and therapies used for pruritus in patients of all ages and for all types of EB. Questions about bathing products, moisturizers, topical products, oral medications, dressings, and alternative therapies were included. A 5-point Likert scale (-2 = relieves itch a lot, -1 = relieves itch a little, 0 = no change, 1 = increases itch a little, 2 = increases itch a lot) was used to evaluate perceived effectiveness. Patients from seven North American EB centers were invited to participate. Greasy ointments (53.4%), lotions (45.2%), creams (40.4%), and oral hydroxyzine (39.0%) were the most frequently used treatments for pruritus. Treatments that were used frequently and perceived to be the most effective included creams (mean = -1.1), topical prescription corticosteroids (mean = -1.0), oils (mean = -0.9), oral hydroxyzine (mean = -0.9), topical diphenhydramine (mean = -0.9), and vaporizing rub (menthol, camphor, eucalyptus) (mean = -0.9). Systemic opioids (mean = 0.3), adherent bandages (mean = 0.3), and bleach baths (mean = 0.2) slightly increased pruritus. Randomized controlled trials of therapies will be necessary to develop evidence-based recommendations for control of pruritus in individuals with EB.

Fragility of epidermis and its consequence in dermatology.

The skin is the largest organ of the body, providing a protective barrier against bacteria, chemicals and physical insults while maintaining homeostasis in the internal environment. Such a barrier function the skin ensures protection against excessive water loss. The skin's immune defence consists of several facets, including immediate, non-specific mechanisms (innate immunity) and delayed, stimulus-specific responses (adaptive immunity), which contribute to fending off a wide range of potentially invasive microorganisms. This article is an overview of all known data about 'fragile skin'. Fragile skin is defined as skin with lower resistance to aggressions. Fragile skin can be classified into four categories up to its origin: physiological fragile skin (age, location), pathological fragile skin (acute and chronic), circumstantial fragile skin (due to environmental extrinsic factors or intrinsic factors such as stress) and iatrogenic fragile skin. This article includes the epidemiologic data, pathologic description of fragile skin with pathophysiological bases (mechanical and immunological role of skin barrier) and clinical description of fragile skin in atopic dermatitis, in acne, in rosacea, in psoriasis, in contact dermatitis and other dermatologic pathologies. This article includes also clinical cases and differential diagnosis of fragile skin (reactive skin) in face in adult population. In conclusion, fragile skin is very frequent worldwide and its prevalence varies between 25% and 52% in Caucasian, African and Asian population.

Pain care for patients with epidermolysis bullosa: best care practice guidelines.

BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a group of rare disorders that have multi-system effects and patients present with a number of both acute and chronic pain care needs. Effects on quality of life are substantial. Pain and itching are burdensome daily problems. Experience with, and knowledge of, the best pain and itch care for these patients is minimal. Evidence-based best care practice guidelines are needed to establish a base of knowledge and practice for practitioners of many disciplines to improve the quality of life for both adult and pediatric patients with EB. METHODS: The process was begun at the request of Dystrophic Epidermolysis Bullosa Research Association International (DEBRA International), an organization dedicated to improvement of care, research and dissemination of knowledge for EB patients worldwide. An international panel of experts in pain and palliative care who have extensive experience caring for patients with EB was assembled. Literature was reviewed and systematically evaluated. For areas of care without direct evidence, clinically relevant literature was assessed, and rounds of consensus building were conducted. The process involved a face-to-face consensus meeting that involved a family representative and methodologist, as well as the panel of clinical experts. During development, EB family input was obtained and the document was reviewed by a wide variety of experts representing several disciplines related to the care of patients with EB. RESULTS: The first evidence-based care guidelines for the care of pain in EB were produced. The guidelines are clinically relevant for care of patients of all subtypes and ages, and apply to practitioners of all disciplines involved in the care of patients with EB. When the evidence suggests that the diagnosis or treatment of painful conditions differs between adults and children, it will be so noted. CONCLUSIONS: Evidence-based care guidelines are a means of standardizing optimal care for EB patients, whose disease is often times horrific in its effects on quality of life, and whose care is resource-intensive and difficult. The guideline development process also highlighted areas for research in order to improve further the evidence base for future care.

Deep sedation with intravenous infusion of combined propofol and ketamine during dressing changes and whirlpool bath in patients with severe epidermolysis bullosa.

Continuous i.v. infusion of propofol, or propofol plus ketamine for deep sedation and analgesia was carried out in two patients with severe epidermolysis bullosa (EB) during extensive dressing changes and deep whirlpool baths. Intermittent small doses of narcotics were given as supplement for pain relief as needed. Both patients had typical features of severe EB, including extremity contractures, severe digit deformity, difficult airways, extensive blisters and broken skin with denuded areas and severe wound infections. SpO(2) was roughly estimated by holding the probe around the earlobe periodically and no other monitors could be applied because of the skin conditions and the settings of the procedures. Retrospective anesthesia record review showed that the combined propofol and ketamine infusions provided satisfactory sedation with significantly reduced narcotic requirements compared with propofol alone. There were no noticeable side effects when ketamine was added. Ketamine appears to be a good addition to propofol and narcotics to provide sedation and analgesia when there are great concerns for respiration depression, apnea, difficult pain management and potential unstable hemodynamics during dressing changes and whirlpool baths in severe EB patients.

Les infections cutanées et leur traitement / Skin infections and thweir treatment

Dans le cadre de cet article nous ne traiterons que les infections bactériennes et laisserons de côte les mycoses cutanées, parasitoses et viroses. Après un bref rappel clinique, nous évoquerons les remèmes homéopathiques et biothérapiques les plus efficaces dans chacune de ces affections. Nous distinguerons... (AU)

Epidermolysis bullosa in the eastern province of Saudi Arabia.

BACKGROUND: Epidermolysis bullosa is recognized to be rare, but its prevalence in the Eastern Province of Saudi Arabia had not been previously established. METHODS: We reviewed 49,902 dermatology cases seen in our clinic over a 7-year period (1984 through 1990) and carried out a therapeutic trial of oral phenytoin in three severe cases of epidermolysis bullosa dystrophica (Recessive dystrophic type). RESULTS: Sixteen cases of epidermolysis bullosa were found in this series, ten (62.5%) of which were of the dermolytic type (epidermolysis bullosa dystrophica), and four (25%) of the epidermolytic type (epidermolysis bullosa simplex). Parental consanguinity was established in fourteen (87.5%) of these cases. All ten cases of epidermolysis bullosa dystrophica developed complications. Three severe cases were treated with oral phenytoin and managed with meticulous nursing and nutrition with blended foods and protein and vitamin supplements and responded satisfactorily. CONCLUSIONS: This study confirmed the rarity of epidermolysis bullosa in this province (population 3,000,000), and demonstrated the usefulness of oral phenytoin therapy, meticulous nursing, and good nutrition in the management of epidermolysis bullosa dystrophica.

Epidermolysis bullosa acquisita: clinical response to plasma exchange therapy and circulating anti-basement membrane zone antibody titer.

Epidermolysis bullosa acquisita has been recognized as a rare autoimmune mechanobullous disorder since the detection of immunoglobulin and complement deposits along the basement membrane zone. A circulating anti-basement membrane zone antibody has also been detected in some cases. We are reporting a case of epidermolysis bullosa acquisita in which clinical symptoms were well correlated with the circulating anti-basement membrane zone antibody titers. Although the patient initially responded very well to corticosteroid therapy, remission could not be maintained without increasing the dosage. Other therapies, including azathioprine, dapsone, vitamin E, and gold sodium thiomalate, produced no beneficial effects. Although a high dose of oral corticosteroid and cyclophosphamide decreased the antibody titer and blister formation, this therapy had to be terminated because of side effects. Plasma exchange therapy in combination with corticosteroid and low-dose cyclophosphamide resulted in a marked decrease of the anti-basement membrane zone antibody titer and clinical improvement. Thus plasma exchange therapy may be a useful adjunct to conventional treatments for patients with epidermolysis bullosa acquisita.