Literature DB >> 24898503

[The many facets of inherited skin fragility].

C Has1, D Kiritsi.   

Abstract

The inherited skin fragility encompasses a heterogeneous group of disorders, collectively designated as epidermolysis bullosa, characterized by recurrent mechanically induced blisters, erosions or wounds. The spectrum of clinical manifestations is broad, as well as the molecular background. Besides the skin, mucosal membranes and other organs can be affected. In real-world practice, patients with mild genetic skin fragility usually do not require medical care and often remain underdiagnosed. In contrast, the well-defined severe EB subtypes are recognized based on typical clinical features. The molecular diagnostics is usually performed in order to allow genetic counselling and prenatal diagnosis. Besides wound care and careful management of the disease complications, new experimental targeted therapies are being developed. New very rare forms of inherited skin fragility have been identified with modern sequencing methods.

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Year:  2014        PMID: 24898503     DOI: 10.1007/s00105-013-2711-1

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


  39 in total

1.  Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.

Authors:  H Shimizu; N Hammami-Hauasli; N Hatta; T Nishikawa; L Bruckner-Tuderman
Journal:  J Invest Dermatol       Date:  1999-09       Impact factor: 8.551

2.  Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

Authors:  Antoni Gostyński; Sara Llames; Marta García; María J Escamez; Lucía Martinez-Santamaria; Miranda Nijenhuis; Alvaro Meana; Hendri H Pas; Fernando Larcher; Anna M G Pasmooij; Marcel F Jonkman; Marcela Del Rio
Journal:  J Invest Dermatol       Date:  2013-07-24       Impact factor: 8.551

3.  Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

Authors:  John E Wagner; Akemi Ishida-Yamamoto; John A McGrath; Maria Hordinsky; Douglas R Keene; David T Woodley; Mei Chen; Megan J Riddle; Mark J Osborn; Troy Lund; Michelle Dolan; Bruce R Blazar; Jakub Tolar
Journal:  N Engl J Med       Date:  2010-08-12       Impact factor: 91.245

4.  Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

Authors:  Dimitra Kiritsi; Johannes S Kern; Hauke Schumann; Jürgen Kohlhase; Cristina Has; Leena Bruckner-Tuderman
Journal:  J Med Genet       Date:  2011-02-28       Impact factor: 6.318

5.  Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

Authors:  Dimitra Kiritsi; Yinghong He; Anna M G Pasmooij; Meltem Onder; Rudolf Happle; Marcel F Jonkman; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Clin Invest       Date:  2012-04-02       Impact factor: 14.808

6.  Integrin α3 mutations with kidney, lung, and skin disease.

Authors:  Cristina Has; Giuseppina Spartà; Dimitra Kiritsi; Lisa Weibel; Alexander Moeller; Virginia Vega-Warner; Aoife Waters; Yinghong He; Yair Anikster; Philipp Esser; Beate K Straub; Ingrid Hausser; Detlef Bockenhauer; Benjamin Dekel; Friedhelm Hildebrandt; Leena Bruckner-Tuderman; Guido F Laube
Journal:  N Engl J Med       Date:  2012-04-19       Impact factor: 91.245

7.  A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Authors:  Richard W Groves; Lu Liu; Patricia J Dopping-Hepenstal; Hugh S Markus; Patricia A Lovell; Linda Ozoemena; Joey E Lai-Cheong; Jeffrey Gawler; Katsushi Owaribe; Takashi Hashimoto; Jemima E Mellerio; John B Mee; John A McGrath
Journal:  J Invest Dermatol       Date:  2010-02-18       Impact factor: 8.551

8.  Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

Authors:  Dimitra Kiritsi; Marta Garcia; Renske Brander; Cristina Has; Rowdy Meijer; Maria Jose Escámez; Jürgen Kohlhase; Peter C van den Akker; Hans Scheffer; Marcel F Jonkman; Marcela Del Rio; Leena Bruckner-Tuderman; Anna M G Pasmooij
Journal:  J Invest Dermatol       Date:  2014-02-27       Impact factor: 8.551

9.  Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.

Authors:  Nayia Nicolaou; Coert Margadant; Sietske H Kevelam; Marc R Lilien; Michiel J S Oosterveld; Maaike Kreft; Albertien M van Eerde; Rolph Pfundt; Paulien A Terhal; Bert van der Zwaag; Peter G J Nikkels; Norman Sachs; Roel Goldschmeding; Nine V A M Knoers; Kirsten Y Renkema; Arnoud Sonnenberg
Journal:  J Clin Invest       Date:  2012-11-01       Impact factor: 14.808

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

Review 1.  [Practical aspects of molecular diagnostics in genodermatoses].

Authors:  C Has; Y He
Journal:  Hautarzt       Date:  2016-01       Impact factor: 0.751

  1 in total

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