Recessive dystrophic epidermolisis bullosa and Kindler syndrome are caused by mutations in essential genes to attach the two layers of the skin. Patients with these diseases suffer from chronic erosion and wounds on the skin and mucosa, which causes severe scarring and metastatic squamous cell carcinoma to develop. Xeroderma pigmentosum is characterized by high sensitivity to ultraviolet light, due to a deficiency in the DNA repair mechanisms, meaning patients are 110,000 times more likely to develop skin cancer.
Using global gene expression analysis, researchers from Universidad Carlos III de Madrid confirmed a genetic signature common to genodermatoses in patients’ cells. The profile targets cellular activation and alteration of the dermal microenvironment that could favor the progression of the disease as well as skin cancer.
The study sheds light on the underlying molecular mechanisms of the diseases and presents new pharmacological targets that are useful for the treatment of associated effects. The findings are promising for therapeutic treatment of patients (for example, with drug repositioning).