scholarly journals Heterogeneous addiction to transforming growth factor‐beta signalling in recessive dystrophic epidermolysis bullosa‐associated cutaneous squamous cell carcinoma

2020 ◽  
Author(s):  
J.H.S. Dayal ◽  
S.M. Mason ◽  
J.C. Salas‐Alanis ◽  
J.A. McGrath ◽  
R.G. Taylor ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Growth Factor ◽  
Cell Carcinoma ◽  
Epidermolysis Bullosa ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Growth Factor Beta

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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