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      Inherited epidermolysis bullosa: clinical and therapeutic aspects* Translated title: Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

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          Abstract

          Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be investigated. Diagnosis must be based on clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages.

          Translated abstract

          A epidermólise bolhosa hereditária (EBH) compreende um grupo heterogêneo de desordens genéticas que têm em comum a fragilidade cutânea e, em alguns casos mucosa, predispondo ao desenvolvimento de bolhas e/ou erosões após fricção ou trauma mínimo. Crianças com história recorrente deste tipo de lesão ou neonatos que as apresentem na ausência de outra explicação plausível devem ser investigados. O diagnóstico deve se basear em achados clínicos e histopatológicos. Até o presente momento, o manejo da EBH consiste basicamente em evitar os traumas desencadeadores das lesões, bem como evitar a infecção e facilitar a cicatrização das feridas com o uso sistemático de curativos.

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          Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.

          Jo-David Fine, Lorraine Johnson, Madeline Weiner … (2009)
          Case series have demonstrated that potentially lethal cutaneous squamous cell carcinomas arise in patients with recessive dystrophic epidermolysis bullosa (RDEB), although the magnitude of this risk is undefined. Systematic case finding and data collection were performed throughout the continental United States (1986-2002) by the National EB Registry on 3280 EB patients to determine cumulative and conditional risks for squamous cell carcinoma (SCC), basal cell carcinoma (BCC), and malignant melanoma (MM) within each major EB subtype, as well as the cumulative risk of death from each tumor. Study design was cross-sectional, with a nested randomly sampled longitudinal subcohort (N = 450). SCCs arose primarily in RDEB, especially the Hallopeau-Siemens subtype (RDEB-HS), first beginning in adolescence. Less frequently, SCCs occurred in junctional EB (JEB). Cumulative risks rose steeply in RDEB-HS, from 7.5% by age 20 to 67.8%, 80.2%, and 90.1% by ages 35, 45, and 55, respectively. In Herlitz JEB, the risk was 18.2% by age 25. SCC deaths occurred only in RDEB, with cumulative risks in RDEB-HS of 38.7%, 70.0%, and 78.7% by ages 35, 45, and 55, respectively. MM arose in RDEB-HS, with a cumulative risk of 2.5% by age 12. BCCs arose almost exclusively in the most severe EB simplex subtype (Dowling-Meara) (cumulative risk = 43.6% by age 55). Mutational analyses were performed on only a minority of enrollees in the National EB Registry, preventing evaluation of the possible influence of specific genotypes on the risk of developing or dying from cutaneous SCCs. SCC is the most serious complication of EB within adults, especially those with RDEB-HS. By mid-adulthood, nearly all will have had at least one SCC, and nearly 80% will have died of metastatic SCC despite aggressive surgical resection. When compared with SCCs arising within the normal population, the remarkably high risk of occurrence of and then death from SCCs among RDEB patients suggests likely differences in pathogenesis. Additional studies of EB-derived tumors and SCC cell lines may not only provide new insights into the mechanisms of carcinogenesis but also means whereby these particular tumors may be prevented or more effectively treated.
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            Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

            A. Mark Osborn, Douglas R. Keene, Martin J. Riddle … (2010)
            Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7 −/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations of recessive dystrophic epidermolysis bullosa in humans. Between October 2007 and August 2009, we treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. We assessed C7 expression by means of immunofluorescence staining and used transmission electron microscopy to visualize anchoring fibrils. We measured chimerism by means of competitive polymerase-chain-reaction assay, and documented blister formation and wound healing with the use of digital photography. One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. We observed increased C7 deposition at the dermal-epidermal junction in five of the six recipients, albeit without normalization of anchoring fibrils. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-C7 antibodies. Increased C7 deposition and a sustained presence of donor cells were found in the skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation. Further studies are needed to assess the long-term risks and benefits of such therapy in patients with this disorder. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00478244.)
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              Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues.

              Jo-David Fine, Jemima E Mellerio (2009)
              Based upon case reports and small case series, it has been known for many years that some types and subtypes of inherited epidermolysis bullosa (EB) may be at risk for developing one or more extracutaneous complications. Many of these are associated with considerable morbidity; some may result in death. Only over the past few years have there been data generated from large, well characterized cohorts. However, these data, to date, have been published almost exclusively in the nondermatologic literature. Our objective is to provide dermatologists with a comprehensive review of each major extracutaneous complication with a summary of the pertinent literature and recommendations for evaluation and optimal management. Part I highlights epithelial associated tissues, and part II addresses other organs. Based on these reviews, the readership should gain a greater understanding of the types of complications that may occur, when they are most likely to develop, and the range of medical and surgical interventions that are currently available. It should also be possible for the reader to develop surveillance strategies based on an understanding of the published evidence-based data. The breadth and range of severity of complications that arise in some EB types and subtypes within the external eye, ear, nose, upper airway, and gastrointestinal and genitourinary tracts suggest that optimal management must be multidisciplinary. Given the unique knowledge that dermatologists have of this disease, we believe that the care of the EB patient should be under the direction of his or her dermatologist, who can best assist in timely referrals to those specialists who are most experienced in the care of specific extracutaneous problems.
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                Author and article information

                Journal
                Journal ID (nlm-ta): An Bras Dermatol
                Journal ID (iso-abbrev): An Bras Dermatol
                Journal ID (publisher-id): An Bras Dermatol
                Title: Anais Brasileiros de Dermatologia
                Publisher: Sociedade Brasileira de Dermatologia
                ISSN (Print): 0365-0596
                ISSN (Electronic): 1806-4841
                Publication date (Print): Mar-Apr 2013
                Volume: 88
                Issue: 2
                Pages: 185-198
                Affiliations
                [1 ] Student of Medicine, Federal University of Bahia (UFBA) – Salvador (BA), Brazil
                [2 ] MD - Resident in Dermatology, Complexo Hospitalar Universitário Prof. Edgard Santos, Federal University of Bahia (C-HUPES/UFBA) – Salvador (BA), Brazil
                [3 ] PhD in Medicine and Health (under course) – Substitute Professor of Dermatology, Federal University of Bahia (UFBA) – Salvador (BA), Brazil
                [4 ] PhD in Medicine and Health – Residency Preceptor, Complexo Hospitalar Universitário Prof. Edgard Santos, Federal University of Bahia (C-HUPES-UFBA) – Salvador (BA), Brazil
                [5 ] M.Sc. in Medicine and Health- Head of the Service of Dermatology, Complexo Hospitalar Universitário Prof. Edgard Santos, Federal University of Bahia (CHUPES- UFBA), Assistant Professor of Dermatology, Federal University of Bahia (UFBA) – Salvador (BA), Brazil
                [6 ] PhD in Medicine and Health- Residency Preceptor, Complexo Hospitalar Universitário Prof. Edgard Santos, Federal University of Bahia (C-HUPES-UFBA) – Salvador (BA), Brazil
                Author notes
                MAILING ADDRESS: Ivonise Follador, Ambulatório Magalhães Neto Padre Feijó, 240, 3º. Andar - Canela. 40110-170 Salvador - BA, Brazil E-mail: ifollador@ 123456hotmail.com
                Article
                DOI: 10.1590/S0365-05962013000200001
                PMC ID: 3750879
                PubMed ID: 23739692
                SO-VID: 3b2231e5-d5b7-4bdf-9bed-8ffc8e89b1af
                Copyright © ©2013 by Anais Brasileiros de Dermatologia
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 26 August 2012
                Date accepted : 24 October 2012
                Categories
                Subject: Continued Medical Education

                Keywords: epidermolysis bullosa,epidermolysis bullosa dystrophica,epidermolysis bullosa, junctional,epidermolysis bullosa simplex
                Data availability:
                Keywords: epidermolysis bullosa, epidermolysis bullosa dystrophica, epidermolysis bullosa, junctional, epidermolysis bullosa simplex

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