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Open Access 01-10-2010 | Oral presentation

The Epidermolysis bullosa house in Salzburg

Author: Gabriela Pohla-Gubo

Published in: Orphanet Journal of Rare Diseases | Special Issue 1/2010

Excerpt

With a reported prevalence of 4.6 per million, Epidermolysis bullosa (EB) is a rare disease comprising a clinically as well as genetically heterogeneous group of inherited mechano-bullous disorders. Minor trauma leads to blisters and erosions on skin and mucous membranes. Based on mutations in genes encoding for structural proteins of basal keratinocytes or within muco-cutaneous basement membranes numerous extra-cutaneous manifestations may complicate this disease, causing multi-systemic involvement with significant morbidity and even mortality that necessitates multidisciplinary care. …

Title: The Epidermolysis bullosa house in Salzburg
Author: Gabriela Pohla-Gubo
Publication date: 01-10-2010
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue Special Issue 1/2010
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-5-S1-O12

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The Epidermolysis bullosa house in Salzburg

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