Literature DB >> 26513070

Hereditary epidermolysis bullosa.

Martin Laimer1, Christine Prodinger1, Johann W Bauer1.   

Abstract

The term epidermolysis bullosa (EB) includes a group of rare genodermatoses characterized by mutational impairment of the structural and functional integrity of intraepidermal adhesion and dermoepidermal anchorage. Clinically, these disorders are marked by increased skin fragility as well as characteristic mechanically inducible blisters on the skin and mucous membranes. Extracutaneous manifestations and their complications in other epithelialized organs render EB a multi-system disease associated with significant morbidity and mortality. Cornerstones of a dynamically changing healthcare structure include precise and early diagnosis; coordinated, multidisciplinary, individually adjusted patient care at specialized centers; optimized symptomatic therapies; and access to research-based, potentially curative therapeutic strategies.
© 2015 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

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Year:  2015        PMID: 26513070     DOI: 10.1111/ddg.12774

Source DB:  PubMed          Journal:  J Dtsch Dermatol Ges        ISSN: 1610-0379            Impact factor:   5.584


  11 in total

1.  Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa.

Authors:  Valeria Venti; Bruna Scalia; Alessandra Sauna; Maria Rita Nasca; Pierluigi Smilari; Andrea D Praticò; Agata Fiumara; Xena G Pappalardo; Piero Pavone
Journal:  Mol Syndromol       Date:  2019-11-16

Review 2.  [Mucosal manifestations of epidermolysis bullosa : Clinical presentation and management].

Authors:  C Prodinger; A Diem; J W Bauer; M Laimer
Journal:  Hautarzt       Date:  2016-10       Impact factor: 0.751

3.  Tie-Over Bolster Pressure Dressing Improves Outcomes of Skin Substitutes Xenografts on Athymic Mice.

Authors:  Andréanne Cartier; Martin A Barbier; Danielle Larouche; Amélie Morissette; Ariane Bussières; Livia Montalin; Chanel Beaudoin Cloutier; Lucie Germain
Journal:  Int J Mol Sci       Date:  2022-05-14       Impact factor: 6.208

4.  Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes.

Authors:  Sunitha Tella; Shehnaz Sultana; Sujatha Madireddy; Pratibha Nallari; Venkateshwari Ananthapur
Journal:  Indian J Dermatol       Date:  2022 Jan-Feb       Impact factor: 1.757

Review 5.  Dental-craniofacial manifestation and treatment of rare diseases.

Authors:  En Luo; Hanghang Liu; Qiucheng Zhao; Bing Shi; Qianming Chen
Journal:  Int J Oral Sci       Date:  2019-02-20       Impact factor: 6.344

6.  Procedural analgesia with nitrous oxide at home for epidermolysis bullosa: A case report.

Authors:  Manuel Murciano; Claudia Laterza; Ettore Attolini; Sonia Storelli; Giovanni Dipietro; Antonio Rubino; Giuseppina Annicchiarico
Journal:  Medicine (Baltimore)       Date:  2022-01-07       Impact factor: 1.889

Review 7.  Case Report: Recessive Dystrophic Epidermolysis Bullosa With Severe Esophageal Stenosis: A Case Report and Literature Review.

Authors:  Zhen Xu; Tianqiao Huang; Min Pan; Yichuan Huang; Yan Jiang
Journal:  Br J Biomed Sci       Date:  2022-03-23       Impact factor: 2.432

8.  Surgical Management of Hand Deformity in Epidermolysis Bullosa: Initial Experience and Technique.

Authors:  Erin E Anstadt; David M Turer; Alexander M Spiess; Ernest K Manders
Journal:  Plast Reconstr Surg Glob Open       Date:  2020-03-11

9.  Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.

Authors:  Michael Ablinger; Thomas Lettner; Nicole Friedl; Hannah Potocki; Theresa Palmetzhofer; Ulrich Koller; Julia Illmer; Bernadette Liemberger; Stefan Hainzl; Alfred Klausegger; Manuela Reisenberger; Jo Lambert; Mireille Van Gele; Eline Desmet; Els Van Maelsaeke; Monika Wimmer; Roland Zauner; Johann W Bauer; Verena Wally
Journal:  Int J Mol Sci       Date:  2021-03-24       Impact factor: 5.923

10.  Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.

Authors:  Thi Huyen Thuong Ma; Thi Lan Anh Luong; Thu Lan Hoang; Thi Thanh Hoa Nguyen; Thi Ha Vu; Van Khoa Tran; Duy Bac Nguyen; Tien Sang Trieu; Hai Ha Nguyen; Van Hai Nong; Dang Ton Nguyen
Journal:  Mol Genet Genomic Med       Date:  2021-07-19       Impact factor: 2.183

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