A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations

A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations

Abstract Background Epidermolysis bullosa simplex (EBS) is a rare genodermatosis resulting from multiple gene mutations, including KRT5 and KRT14. The clinical expression of the mechanobullous skin fragility disease has not been fully explained by the genotype. Case Descrip...

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Bibliographic Details
Main Authors: Hiroyuki Wakiguchi, Shunji Hasegawa, Shinji Maeba, Sasagu Kimura, Satoko Ito, Hiroshi Tateishi, Kazuhiro Ueda, Shouichi Ohga
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2016-02-01
Series:American Journal of Perinatology Reports
Subjects:
epidermolysis bullosa simplex
krt5
krt14
mutation
newborn
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1570386

Internet

http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1570386

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