High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion

2014 ◽  
Vol 170 (6) ◽  
pp. 1256-1265 ◽  
Author(s):  
C. Pourreyron ◽  
M. Chen ◽  
J.A. McGrath ◽  
J.C. Salas-Alanis ◽  
A.P. South ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Migration ◽  
Epidermolysis Bullosa ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Migration And Invasion ◽  
Dystrophic Epidermolysis Bullosa ◽  
Collagen Expression ◽  
Type Vii Collagen ◽  
Mapk Signalling ◽  
Recessive Dystrophic Epidermolysis Bullosa

scholarly journals A CASE REPORT OF AGGRESSIVE SQUAMOUS CELL CARCINOMA IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

2020 ◽  
Vol 66 (5) ◽  
pp. 556-562
Author(s):  
A. Kubanov ◽  
Arfenya Karamova ◽  
Vadim Chikin ◽  
Yekaterina Monchakovskaya ◽  
M. Nefedova
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Early Mortality ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Healing Wounds ◽  
Col7a1 Gene

Recessive dystrophic epidermolysis bullosa (RDEB) is an orphan genetic skin disease which is caused by mutations in COL7A1 gene. COL7A1 encodes collagen VII - a major component of anchoring fibrils which sustain the dermal-epidermal junction. Non-healing wounds typically are presented in patients with RDEB. They predispose cutaneous squamous cell carcinoma (SCC) development. RDEB-associated SCC is a rapidly growing tumor of aggressive nature which generally arises at young age and results in early mortality. This article reports 2 patients with RDEB-associated SCCs.

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