scholarly journals A Novel Mutation of KRT14 Gene in a Newborn with Epidermolysis Bullosa Simplex (Dowling-Meara Type): Case Report

Perinatology ◽  
2020 ◽  
Vol 31 (1) ◽  
pp. 39
Author(s):  
Sung-min Lim ◽  
Jin hee Kim ◽  
Yeseul Kim ◽  
Seung Sam Paik ◽  
Jeong Eun Kim ◽  
...  
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex with mottled pigmentation: a case report

2009 ◽  
Vol 48 (7) ◽  
pp. 753-754 ◽  
Author(s):  
Christian Andres ◽  
Wenchieh Chen ◽  
Heidelore Hofmann ◽  
Johannes Ring ◽  
Christina Schnopp
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex

scholarly journals A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex

2021 ◽  
Vol 33 (1) ◽  
pp. 11
Author(s):  
Xin Jiang ◽  
Yingyu Zhu ◽  
Huihui Sun ◽  
Feng Gu
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex

scholarly journals Inherited Epidermolysis Bullosa: A case report

2015 ◽  
Vol 3 (3) ◽  
pp. 39-42 ◽  
Author(s):  
Shyam Kumar Mahato ◽  
Susana Lama ◽  
Nikhil Agarwal ◽  
Nagendra Chaudhary
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Neonatal Period ◽  
Heterogeneous Group ◽  
Mechanical Trauma ◽  
Epidermolysis Bullosa Simplex ◽  
Blister Formation ◽  
Inherited Epidermolysis Bullosa ◽  
Genetically Determined ◽  
Degrees Of Severity

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechano-bullous disorders characterized by blister formation in response to mechanical trauma. The blistering of the skin occurs in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Epidermolysis Bullosa Simplex (EBS), the most commonly occurring type, is dominantly inherited where treatment still remains a major challenge. We report a newborn female with blistering of the skin during the immediate neonatal period.

scholarly journals Management of epidermolysis bullosa simplex in pregnancy: A case report

2019 ◽  
Vol 24 ◽  
pp. e00140
Author(s):  
Nidhi Shah ◽  
Sangeeta Kumaraswami ◽  
Juliet E. Mushi
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
In Pregnancy

scholarly journals A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex

1998 ◽  
Vol 111 (3) ◽  
pp. 524-527 ◽  
Author(s):  
Philippa Galligan ◽  
Pawel Listwan ◽  
Gregory M. Siller ◽  
Joseph A. Rothnagel
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

Negative pressure wound treatment in a neonate with epidermolysis bullosa simplex severe generalized: A case report

2020 ◽  
Vol 37 (6) ◽  
pp. 1218-1220
Author(s):  
Anna‐Barbara Schlueer ◽  
Agnes Schwieger‐Briel ◽  
Martin Theiler ◽  
Kathrin Neuhaus ◽  
Clemens Schiestl ◽  
...  
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Negative Pressure ◽  
Wound Treatment ◽  
Epidermolysis Bullosa Simplex
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