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Clare", "lastName": "Robinson" } ], "abstractNote": "Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of blistering disorders with considerable morbidity and mortality. Two decades ago, EB entered the molecular era with the identification of mutations in specific genes expressed within the cutaneous basement membrane zone; mutations in 14 genes have now been identified. 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Orphan Drug App", "links": { "alternate": { "href": "https://www.zotero.org/groups/als_432_-_orphan_drug_app", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/401724/items/6STP3PX6", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/als_432_-_orphan_drug_app/items/6STP3PX6", "type": "text/html" } }, "meta": { "createdByUser": { "id": 2607264, "username": "ericlin93", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/ericlin93", "type": "text/html" } } }, "creatorSummary": "Pfendner and Bruckner", "parsedDate": "1993", "numChildren": 2 }, "data": { "key": "6STP3PX6", "version": 178, "itemType": "bookSection", "title": "Epidermolysis Bullosa Simplex", "creators": [ { "creatorType": "author", "firstName": "Ellen G.", "lastName": "Pfendner" }, { "creatorType": "author", "firstName": "Anna L.", "lastName": "Bruckner" }, { "creatorType": "editor", "firstName": "Roberta A.", "lastName": "Pagon" }, { "creatorType": "editor", "firstName": "Margaret P.", "lastName": "Adam" }, { "creatorType": "editor", "firstName": "Holly H.", "lastName": "Ardinger" }, { "creatorType": "editor", "firstName": "Stephanie E.", "lastName": "Wallace" }, { "creatorType": "editor", "firstName": "Anne", "lastName": "Amemiya" }, { "creatorType": "editor", "firstName": "Lora JH", "lastName": "Bean" }, { "creatorType": "editor", "firstName": "Thomas D.", "lastName": "Bird" }, { "creatorType": "editor", "firstName": "Chin-To", "lastName": "Fong" }, { "creatorType": "editor", "firstName": "Heather C.", "lastName": "Mefford" }, { "creatorType": "editor", "firstName": "Richard JH", "lastName": "Smith" }, { "creatorType": "editor", "firstName": "Karen", "lastName": "Stephens" } ], "abstractNote": "Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some cases) that results in nonscarring blisters caused by little or no trauma. The current classification of epidermolysis bullosa (EB) includes two major types and 12 minor subtypes of EBS; all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The four most common subtypes of EBS are the focus of this GeneReview: EBS, localized (EBS-loc; previously known as Weber-Cockayne type). EBS, Dowling-Meara type (EBS-DM). EBS, other generalized (EBS, gen-nonDM; previously known as Koebner type). EBS-with mottled pigmentation (EBS-MP) . The phenotypes for these subtypes range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. In EBS-loc, blisters are rarely present or minimal at birth and may occur on the knees and shins with crawling or on the feet at approximately age18 months; some individuals manifest the disease in adolescence or early adulthood. Blisters are usually confined to the hands and feet, but can occur anywhere if trauma is significant. In EBS, gen-non DM, blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-DM. In EBS-MP, skin fragility is evident at birth and clinically indistinguishable from EBS-DM; over time, progressive brown pigmentation interspersed with hypopigmented spots develops on the trunk and extremities, with the pigmentation disappearing in adult life. Focal palmar and plantar hyperkeratoses may occur. In EBS-DM, onset is usually at birth; severity varies greatly, both within and among families. Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. EBS-DM appears to improve with warmth in some individuals. Progressive hyperkeratosis of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy and milia are common. Both hyper- and hypopigmentation can occur. Mucosal involvement in EBS-DM may interfere with feeding. Blistering can be severe enough to result in neonatal or infant death., EBS-loc can almost always be diagnosed clinically. Diagnosis of generalized forms of EBS requires a skin biopsy obtained from the leading edge of a fresh blister; diagnosis is based on immunohistochemistry using appropriate fluorescent antibodies or transmission electron microscopic examination that reveals splitting within or just above the basal cell layer of the skin. . The four most common forms of EBS are caused by mutation in either KRT5 or KRT14. Molecular genetic testing of KRT5 and KRT14 detects mutations in approximately 75% of individuals with biopsy-diagnosed EBS-loc, EBS-DM, and EBS-gen-nonDM, and 90%-95% of mutations in those with EBS-MP., Treatment of manifestations: Supportive care to protect the skin from blistering; use of dressings that will not further damage the skin and will promote healing. Lance and drain new blisters. Dressings involve three layers: a primary nonadherent contact layer, a secondary layer providing stability and adding padding, and a tertiary layer with elastic properties. Prevention of primary manifestations: Aluminum chloride (20%) applied to palms and soles can reduce blister formation in some individuals. Cyproheptadine (Periactin(®)), tetracycline, or botulimun toxin can reduce blistering in some individuals with EBS. Keratolytics and softening agents for palmar plantar hyperkeratosis may prevent tissue thickening and cracking. Prevention of secondary complications: Watch for wound infection; treatment with topical and/or systemic antibiotics or silver-impregnated dressings or gels can be helpful. Appropriate footwear and physical therapy may preserve ambulation in children who have difficulty walking because of blistering and hyperkeratosis. Surveillance: For infection and proper wound healing. Agents/circumstances to avoid: Excessive heat may exacerbate blistering and infection. Avoid poorly fitting or coarse-textured clothing/footwear and activities that traumatize the skin., EBS caused by mutations in KRT5 or KRT14 is usually inherited in an autosomal dominant manner, but in rare families, especially those with consanguinity, it can be inherited in an autosomal recessive manner. For autosomal dominant EBS: Affected individuals may have inherited the mutated gene from an affected parent or have the disorder as the result of a de novo gene mutation. 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Wound care and dressing changes are an important part of the daily lives of individuals with RDEB. Ideal wound care should improve wound healing, minimize pain, and improve quality of life. The objective of the current study was to review wound care options that might be used in a patient with RDEB and calculate the cost of these various options based on publicly available pricing of wound care products. There is a wide range of costs for wound care options in patients with RDEB. For example, a 1-day supply of dressing for a neonate boy with RDEB ranges from $10.64 for the least expensive option to $127.54 for the most expensive option. Wound care in patients with severe, generalized RDEB has not only a significant economic effect, but also directly affects quality of life in this patient population. Although randomized controlled trials evaluating different wound care products in patients with RDEB are lacking, small studies and expert opinion support the use of specialized nonadherent dressings that minimize skin trauma and promote wound healing. Until there is a cure, prospective studies are needed to assess pain, quality of life, and wound healing associated with the use of specialized wound care products for this life-altering condition.", "publicationTitle": "Pediatric Dermatology", "publisher": "", "place": "", "date": "2014/01//Jan/Feb2014", "volume": "31", "issue": "1", "section": "", "partNumber": "", "partTitle": "", "pages": "33-37", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "Pediatric Dermatology", "DOI": "10.1111/pde.12243", "citationKey": "", "url": "http://search.ebscohost.com/login.aspx?direct=true&db=aph&AN=93525055&site=ehost-live&scope=site", "accessDate": "2015-10-22T23:05:44Z", "PMID": "", "PMCID": "", "ISSN": "07368046", "archive": "", "archiveLocation": "", "shortTitle": "Evaluation of Wound Care Options in Patients with Recessive Dystrophic Epidermolysis Bullosa", "language": "", "libraryCatalog": "EBSCOhost", "callNumber": "", "rights": "", "extra": "", "tags": [ { "tag": "EPIDERMOLYSIS bullosa", "type": 1 }, { "tag": "GENETIC disorders", "type": 1 }, { "tag": "PEDIATRIC dermatology", "type": 1 }, { "tag": "QUALITY of life", "type": 1 }, { "tag": "WOUNDS & injuries", "type": 1 } ], "collections": [ "CDVQQS9A" ], "relations": {}, "dateAdded": "2015-10-22T23:05:44Z", "dateModified": "2015-10-22T23:05:44Z" } }, { "key": "KWN4W7W8", "version": 171, "library": { "type": "group", "id": 401724, "name": "ALS 432 - Orphan Drug App", "links": { "alternate": { "href": "https://www.zotero.org/groups/als_432_-_orphan_drug_app", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/401724/items/KWN4W7W8", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/als_432_-_orphan_drug_app/items/KWN4W7W8", "type": "text/html" } }, "meta": { "createdByUser": { "id": 2042735, "username": "hpetty14", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/hpetty14", "type": "text/html" } } }, "creatorSummary": "Soro et al.", "parsedDate": "2015-05", "numChildren": 1 }, "data": { "key": "KWN4W7W8", "version": 171, "itemType": "journalArticle", "title": "Recessive Dystrophic Epidermolysis Bullosa", "creators": [ { "creatorType": "author", "firstName": "Luis", "lastName": "Soro" }, { "creatorType": "author", "firstName": "Cynthia", "lastName": "Bartus" }, { "creatorType": "author", "firstName": "Stephen", "lastName": "Purcell" } ], "abstractNote": "Objective: Review the pathogenesis of recessive dystrophic epidermolysis bullosa and provide an update on research currently underway that is aimed at treating and potentially curing this severe skin disorder. Design: Review article. Setting: Private practice and large teaching hospital. Participants: None. Measurements: N/A. Results: Currently, patients with recessive dystrophic epidermolysis bullosa are managed with only supportive care. However, there are several promising new treatment avenues that may help patients in the future. These include gene therapy, cell therapy, and protein-based therapy. Each approach offers distinct advantages and disadvantages. Conclusions: The advances in understanding the molecular basis for epidermolysis bullosa over the last few decades has led to significant progress in devising new treatment options. Though many of these approaches remain several years away from regular implementation, it is an exciting time for research in the field.", "publicationTitle": "The Journal of Clinical and Aesthetic Dermatology", "publisher": "", "place": "", "date": "2015-5", "volume": "8", "issue": "5", "section": "", "partNumber": "", "partTitle": "", "pages": "41-46", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "J Clin Aesthet Dermatol", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445895/", "accessDate": "2015-10-22T22:22:32Z", "PMID": "", "PMCID": "", "ISSN": "1941-2789", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "", "libraryCatalog": "PubMed Central", "callNumber": "", "rights": "", "extra": "PMID: 26029334\nPMCID: PMC4445895", "tags": [], "collections": [ "CDVQQS9A" ], "relations": {}, "dateAdded": "2015-10-22T22:22:32Z", "dateModified": "2015-10-22T22:22:32Z" } }, { "key": "ZESNXR5F", "version": 171, "library": { "type": "group", "id": 401724, "name": "ALS 432 - 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