Literature DB >> 23721227

Junctional epidermolysis bullosa incidence and survival: 5-year experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator, 2007 to 2011.

Geraldine Kelly-Mancuso1, Brett Kopelan, Richard G Azizkhan, Anne W Lucky.   

Abstract

Junctional epidermolysis bullosa (JEB) is a particularly devastating type of epidermolysis bullosa, especially in the newborn period. Data about the number of new cases of JEB in the United States were collected from the records of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator. Seventy-one children with JEB were reported to have been born in the 5 years between 2007 and 2011, reflecting an incidence of at least 3.59 per million per year, significantly higher than previously estimated (2.04 per million). There was a high prevalence of morbidity and infant mortality of at least 73%, as 52 of the 71 cases proved fatal by June 2012. These data emphasize the need for future research to develop treatment and ultimately a cure for this disorder.
© 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID: 23721227     DOI: 10.1111/pde.12157

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  8 in total

1.  Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.

Authors:  Vadim Lincoln; Jon Cogan; Yingping Hou; Michaela Hirsch; Michelle Hao; Vitali Alexeev; Michele De Luca; Laura De Rosa; Johann W Bauer; David T Woodley; Mei Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-26       Impact factor: 11.205

Review 2.  Epidermolysis bullosa and the partnership with autoimmunity: what should we assimilate?

Authors:  Susanna Esposito; Sophie Guez; Francesca Manzoni; Annalisa Bosco; Donato Rigante
Journal:  Immunol Res       Date:  2015-02       Impact factor: 2.829

3.  Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.

Authors:  Fahad Ahmed; Lisa R Young; Marissa J Perman
Journal:  Pediatr Dermatol       Date:  2022-02-17       Impact factor: 1.588

4.  Health literacy in patients with epidermolysis bullosa in Iran.

Authors:  Mohammad Mahdi Parvizi; Kamran Bagheri Lankarani; Farhad Handjani; Sulmaz Ghahramani; Zahra Parvizi; Sara Rousta
Journal:  J Educ Health Promot       Date:  2017-12-04

5.  Butterfly Patients in Iran Waiting to Specific Attention from Authorities.

Authors:  Mohammad Mahdi Parvizi; Nasrin Saki; Zahra Parvizi
Journal:  Iran J Public Health       Date:  2017-07       Impact factor: 1.429

Review 6.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27

7.  Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita.

Authors:  Melinda Matyas; Diana Miclea; Gabriela Zaharie
Journal:  Front Genet       Date:  2021-07-08       Impact factor: 4.599

8.  Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.

Authors:  Andrew Kwong; Jon Cogan; Yingping Hou; Richard Antaya; Michelle Hao; Gene Kim; Vadim Lincoln; Qiuyang Chen; David T Woodley; Mei Chen
Journal:  Mol Ther       Date:  2020-03-17       Impact factor: 11.454

  8 in total

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