224 Mechanisms of squamous cell carcinoma development in patients with recessive dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a skin blistering disease caused by mutations in the COL7A1 gene. RDEB patients experience severe blistering and fragility of the skin and mucous membranes, leading to pseudosyndactyly, susceptibility to infections, esophageal strictures, and aggressive cutaneous squamous cell carcinoma (SCC), which accounts for more than two thirds of RDEB patient deaths. RDEB patients can have multiple primary tumors and these tumors develop and metastasize much more quickly than in the general population.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Carcinogenesis and Cancer Genetics Source Type: research