Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

1999 ◽  
Vol 13 (6) ◽  
pp. 439-452 ◽  
Author(s):  
Rita Gardella ◽  
Nicoletta Zoppi ◽  
Sergio Ferraboli ◽  
Dario Marini ◽  
Gianluca Tadini ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Type ◽  
Dermal Fibroblasts ◽  
Dystrophic Epidermolysis Bullosa ◽  
Transcript Levels ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Collagen Type Vii

scholarly journals Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

2010 ◽  
Vol 130 (10) ◽  
pp. 2508-2511 ◽  
Author(s):  
Christine Chiaverini ◽  
Alexandra V. Charlesworth ◽  
Monia Youssef ◽  
Jean-François Cuny ◽  
Smail H. Rabia ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Type ◽  
Missense Mutations ◽  
Dystrophic Epidermolysis Bullosa ◽  
Collagen Type Vii

scholarly journals Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa

2021 ◽  
Vol 22 (10) ◽  
pp. 5104
Author(s):  
Grace Tartaglia ◽  
Qingqing Cao ◽  
Zachary M. Padron ◽  
Andrew P. South
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Dermal Fibroblasts ◽  
Direct Result ◽  
Tgfβ Signaling ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Recessive Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a devastating skin blistering disease caused by mutations in the gene encoding type VII collagen (C7), leading to epidermal fragility, trauma-induced blistering, and long term, hard-to-heal wounds. Fibrosis develops rapidly in RDEB skin and contributes to both chronic wounds, which emerge after cycles of repetitive wound and scar formation, and squamous cell carcinoma—the single biggest cause of death in this patient group. The molecular pathways disrupted in a broad spectrum of fibrotic disease are also disrupted in RDEB, and squamous cell carcinomas arising in RDEB are thus far molecularly indistinct from other sub-types of aggressive squamous cell carcinoma (SCC). Collectively these data demonstrate RDEB is a model for understanding the molecular basis of both fibrosis and rapidly developing aggressive cancer. A number of studies have shown that RDEB pathogenesis is driven by a radical change in extracellular matrix (ECM) composition and increased transforming growth factor-beta (TGFβ) signaling that is a direct result of C7 loss-of-function in dermal fibroblasts. However, the exact mechanism of how C7 loss results in extensive fibrosis is unclear, particularly how TGFβ signaling is activated and then sustained through complex networks of cell-cell interaction not limited to the traditional fibrotic protagonist, the dermal fibroblast. Continued study of this rare disease will likely yield paradigms relevant to more common pathologies.

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