Literature DB >> 1999509

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

J D Fine1, E A Bauer, R A Briggaman, D M Carter, R A Eady, N B Esterly, K A Holbrook, S Hurwitz, L Johnson, A Lin.   

Abstract

Inherited epidermolysis bullosa encompasses a number of diseases, with the common finding of blister formation after minor mechanical trauma to the skin. In some forms significant, if not eventually fatal, extracutaneous disease activity may occur. In recent years application of newer technologies has contributed substantially to an overall understanding of this collection of inherited diseases. Concurrently, many new phenotypes have been recognized, in part the result of ongoing prospective patient registries in the United States and abroad. Unfortunately, this has resulted in a massive literature that may appear to be confounded by seemingly excessive or arbitrary subdivision of epidermolysis bullosa variants. With these concerns in mind a subcommittee was established by the National Epidermolysis Bullosa Registry to summarize the current literature and to make recommendations as to the best clinical and laboratory criteria for the practical diagnosis and subclassification of patients with inherited epidermolysis bullosa.

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Year:  1991        PMID: 1999509     DOI: 10.1016/0190-9622(91)70021-s

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  56 in total

1.  IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.

Authors:  J E Kuster; M H Guarnieri; J G Ault; L Flaherty; P J Swiatek
Journal:  Mamm Genome       Date:  1997-09       Impact factor: 2.957

Review 2.  Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

Authors:  J Uitto; A M Christiano
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

3.  Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Authors:  A Hovnanian; P Duquesnoy; C Blanchet-Bardon; R G Knowlton; S Amselem; M Lathrop; L Dubertret; J Uitto; M Goossens
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

4.  Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

Authors:  M Ryynänen; J Ryynänen; S Sollberg; R V Iozzo; R G Knowlton; J Uitto
Journal:  J Clin Invest       Date:  1992-03       Impact factor: 14.808

5.  Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Authors:  A Hovnanian; A Rochat; C Bodemer; E Petit; C A Rivers; C Prost; S Fraitag; A M Christiano; J Uitto; M Lathrop; Y Barrandon; Y de Prost
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

6.  Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

Authors:  M Ryynänen; R G Knowlton; J Uitto
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

7.  The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

Authors:  Y M Chan; Q C Yu; J D Fine; E Fuchs
Journal:  Proc Natl Acad Sci U S A       Date:  1993-08-01       Impact factor: 11.205

8.  Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Authors:  A Hovnanian; L Hilal; C Blanchet-Bardon; Y de Prost; A M Christiano; J Uitto; M Goossens
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

9.  Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Authors:  L Pulkkinen; F Rouan; L Bruckner-Tuderman; R Wallerstein; M Garzon; T Brown; L Smith; W Carter; J Uitto
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

10.  Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

Authors:  A M Christiano; J A McGrath; K C Tan; J Uitto
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

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