[HTML][HTML] Epidermolysis bullosa-associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives

AG Condorelli, E Dellambra, E Logli… - International journal of …, 2019 - mdpi.com
AG Condorelli, E Dellambra, E Logli, G Zambruno, D Castiglia
International journal of molecular sciences, 2019mdpi.com
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders determined
by mutations in genes encoding for structural components of the cutaneous basement
membrane zone. Disease hallmarks are skin fragility and unremitting blistering. The most
disabling EB (sub) types show defective wound healing, fibrosis and inflammation at
lesional skin. These features expose patients to serious disease complications, including the
development of cutaneous squamous cell carcinomas (SCCs). Almost all subjects affected …
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders determined by mutations in genes encoding for structural components of the cutaneous basement membrane zone. Disease hallmarks are skin fragility and unremitting blistering. The most disabling EB (sub)types show defective wound healing, fibrosis and inflammation at lesional skin. These features expose patients to serious disease complications, including the development of cutaneous squamous cell carcinomas (SCCs). Almost all subjects affected with the severe recessive dystrophic EB (RDEB) subtype suffer from early and extremely aggressive SCCs (RDEB-SCC), which represent the first cause of death in these patients. The genetic determinants of RDEB-SCC do not exhaustively explain its unique behavior as compared to low-risk, ultraviolet-induced SCCs in the general population. On the other hand, a growing body of evidence points to the key role of tumor microenvironment in initiation, progression and spreading of RDEB-SCC, as well as of other, less-investigated, EB-related SCCs (EB-SCCs). Here, we discuss the recent advances in understanding the complex series of molecular events (i.e., fibrotic, inflammatory, and immune processes) contributing to SCC development in EB patients, cross-compare tumor features in the different EB subtypes and report the most promising therapeutic approaches to counteract or delay EB-SCCs.
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