Journal Of Investigative Dermatology

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Updated: 44 min 43 sec ago

Gene Therapy for Epidermolysis Bullosa

Sun, 2019-05-05 00:00
Epidermolysis bullosa is a family of diseases characterized by blistering and fragility of the skin in response to mechanical trauma. Advances in our understanding of epidermolysis bullosa pathophysiology have provided the necessary foundation for the first clinical trials of gene therapy for junctional and dystrophic epidermolysis bullosa. These therapies show that gene therapy is both safe and effective, with the potential to correct the molecular and clinical phenotype of patients with epidermolysis bullosa.

Local inhibition of MEK/AKT prevents cellular growth in human congenital melanocytic nevi

Fri, 2019-05-03 00:00
Large congenital melanocytic nevi (lCMN) management is based exclusively on iterative surgical procedures in the absence of validated medical therapy. The aim of our study was to develop an intra-lesional medical treatment for lCMN. Seventeen patients harboring NRAS-mutated lCMN were included. Nevocytes obtained from lCMN displayed an overactivation of MAPK and AKT pathways. MEK and AKT inhibitors reduced nevosphere diameter in sphere-forming assays, as well as cell viability and proliferation in in vitro assays.