Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005
2007; Wiley; Volume: 46; Issue: 8 Linguagem: Inglês
10.1111/j.1365-4632.2007.03311.x
ISSN1365-4632
AutoresAnne W. Lucky, Ellen G Pfendner, Elizabeth Pillay, Judy Paskel, Madeline Weiner, Francis Palisson,
Tópico(s)Genetic and rare skin diseases.
ResumoInternational Journal of DermatologyVolume 46, Issue 8 p. 809-814 Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005 Anne W. Lucky MD, Anne W. Lucky MD From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorEllen Pfendner PhD, Ellen Pfendner PhD From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorElizabeth Pillay RN, Elizabeth Pillay RN From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorJudy Paskel, Judy Paskel From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorMadeline Weiner RN, Madeline Weiner RN From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorFrancis Palisson MD, Francis Palisson MD From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this author Anne W. Lucky MD, Anne W. Lucky MD From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorEllen Pfendner PhD, Ellen Pfendner PhD From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorElizabeth Pillay RN, Elizabeth Pillay RN From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorJudy Paskel, Judy Paskel From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorMadeline Weiner RN, Madeline Weiner RN From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this authorFrancis Palisson MD, Francis Palisson MD From the Division of Pediatric Dermatology and Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, GeneDx Inc., Gaithersberg, Maryland, Department of Dermatology, St John's Institute of Dermatology, St Thomas’ Hospital, London, UK, Department of Dermatology, Great Ormond Street Hospital for Children, London, UK, Dystrophic Epidermolysis Bullosa Research Association (DebRA) Costa Rica, San Jose, Costa Rica, DebRA of America, New York, and Facultad de Medicina Clínica Alemana, Universidad del Desarrollo and DebRA Chile Foundation, Santiago, ChileSearch for more papers by this author First published: 21 July 2007 https://doi.org/10.1111/j.1365-4632.2007.03311.xCitations: 11 Anne W. Lucky, MD Division of Pediatric Dermatology and the Epidermolysis Bullosa Center Cincinnati Children's Hospital Medical Center Cincinnati, OH 45229 E-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Fine J-D, Eady RAJ, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000; 42: 1051. 2 Fine J-D, Bauer EA, Gedde-Dahl T Jr. Inherited epidermolysis bullosa: definition and historical overview. In: J-D Fine, EA Bauer, J McGuire, et al., eds. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: The Johns Hopkins University Press, 1999: 1–19. 3 Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: DL Rimoin, JM Connor, RE Pyeritz, et al., eds. Principles and Practice of Medical Genetics, 4th edn. London: Churchill-Livingstone, 2002: 3810–3897. 4 Uitto J, Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol 2005; 23: 33–40. 5 Varki R, Sadowski S, Pfendner E, et al. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006; 43: 641–652. 6 Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005; 77: 653–660. 7 Pfendner EG, Bruckner A, Conget P, et al. Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol 2007; in press. 8 Hovnanian A, Hilal L, Blanchet-Bardon C, et al. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 1995; 104: 456–461. 9 Pfendner EG, Nakano A, Pulkkinen L, et al. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 2003; 23: 447–456. 10 Floeth M, Bruckner-Tuderman L. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am J Hum Genet 1999; 65: 1530–1537. 11 Van Der Meulen MA, Van Der Meulen MJP, Te Meerman GJ. Recurrence risk for germinal mosaics revisited. J Med Genet 1995; 32: 102–104. 12 Cserhalmi-Friedman PB, Anyane-Yeboa K, Christiano AM. Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. Exp Dermatol 2002; 11: 468–470. 13 Takizawa Y, Pulkkinen L, Chao SC, et al. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2000; 115: 307–311. 14 Fassihi H, Wessagowit V, Ashton GH, et al. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 2005; 30: 71–74. 15 Pulkkinen L, Bullrich F, Czarnecki P, et al. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 1997; 61: 611–619. 16 Fassihi H, Renwick PJ, Black C, et al. Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau–Siemens recessive dystrophic epidermolysis bullosa. J Dermatol Sci 2006; 42: 241–248. 17 Mallipeddi R, Pillay EI, Bewley S, et al. Pregnancy in epidermolysis bullosa. Br J Dermatol 2003; 149 (Suppl. 64): 51. 18 Buscher U, Wessell J, Anton-Lamprecht I, et al. Pregnancy and delivery in a patient with mutilating dystrophic epidermolysis bullosa (Hallopeau–Siemens type). Obstetr Gynaecol 1997; 89: 817–820. 19 Pillay E. Pregnancy and childbirth in epidermolysis bullosa. Monograph. Citing Literature Volume46, Issue8August 2007Pages 809-814 ReferencesRelatedInformation
Referência(s)