Literature DB >> 19565201

[Epidermolysis bullosa. An update].

H Schumann1.   

Abstract

Epidermolysis bullosa (EB) represents a group of diseases characterized by skin fragility usually developing blisters after minimal trauma. The clinical picture ranges from mild subtypes with minor skin reactions to severe forms with lethal outcome within the first months of life. In the severe generalized subtypes, complications such as aggressive squamous cell carcinoma of the skin, anemia, esophageal stenosis and cardiomyopathy can occur so that multidisciplinary patient care is necessary. EB can be divided in four types--EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. All together 33 subtypes can be distinguished. In 2008 a revised EB classification was introduced. Several eponyms for EB subtypes were replaced by descriptive names. The review presents the EB subtypes based on the new EB classification system, the molecular background and new therapeutic options.

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Mesh:

Year:  2009        PMID: 19565201     DOI: 10.1007/s00105-008-1677-x

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  26 in total

1.  Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex.

Authors:  D S Morrell; D S Rubenstein; R A Briggaman; J D Fine; L Pulkkinen; J Uitto
Journal:  Br J Dermatol       Date:  2000-12       Impact factor: 9.302

2.  Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.

Authors:  J D Fine; L Johnson; T Wright
Journal:  Arch Dermatol       Date:  1989-05

3.  Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

Authors:  J A McGrath; J R McMillan; C S Shemanko; S K Runswick; I M Leigh; E B Lane; D R Garrod; R A Eady
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

4.  Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Authors:  Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

5.  The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Authors:  Jo-David Fine; Robin A J Eady; Eugene A Bauer; Johann W Bauer; Leena Bruckner-Tuderman; Adrian Heagerty; Helmut Hintner; Alain Hovnanian; Marcel F Jonkman; Irene Leigh; John A McGrath; Jemima E Mellerio; Dedee F Murrell; Hiroshi Shimizu; Jouni Uitto; Anders Vahlquist; David Woodley; Giovanna Zambruno
Journal:  J Am Acad Dermatol       Date:  2008-04-18       Impact factor: 11.527

6.  Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.

Authors:  Marcel F Jonkman; Anna M G Pasmooij; Suzanne G M A Pasmans; Maarten P van den Berg; Henk J Ter Horst; Albertus Timmer; Hendri H Pas
Journal:  Am J Hum Genet       Date:  2005-08-17       Impact factor: 11.025

7.  Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.

Authors:  Mei Chen; Noriyuki Kasahara; Douglas R Keene; Lawrence Chan; Warren K Hoeffler; Deborah Finlay; Maria Barcova; Paula M Cannon; Constance Mazurek; David T Woodley
Journal:  Nat Genet       Date:  2002-11-11       Impact factor: 38.330

8.  Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

Authors:  Tracy Wong; Luke Gammon; Lu Liu; Jemima E Mellerio; Patricia J C Dopping-Hepenstal; John Pacy; George Elia; Rosemary Jeffery; Irene M Leigh; Harshad Navsaria; John A McGrath
Journal:  J Invest Dermatol       Date:  2008-04-03       Impact factor: 8.551

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

Authors:  Jo-David Fine; Lorraine B Johnson; Madeline Weiner; Kuo-Ping Li; Chirayath Suchindran
Journal:  J Am Acad Dermatol       Date:  2008-11-20       Impact factor: 11.527

10.  Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

Authors:  Fulvio Mavilio; Graziella Pellegrini; Stefano Ferrari; Francesca Di Nunzio; Enzo Di Iorio; Alessandra Recchia; Giulietta Maruggi; Giuliana Ferrari; Elena Provasi; Chiara Bonini; Sergio Capurro; Andrea Conti; Cristina Magnoni; Alberto Giannetti; Michele De Luca
Journal:  Nat Med       Date:  2006-11-19       Impact factor: 53.440

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  1 in total

1.  Epidermolysis Bullosa Pruriginosa Associated with Folliculitis Decalvans: Case Report and Review of the Literature.

Authors:  Maria Cecília Rivitti-Machado; Juliana T Toma; Vivianne M A Pompeu; Neusa Y S Valente; Isabella Doche
Journal:  Skin Appendage Disord       Date:  2017-12-22
  1 in total

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