Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes

Abstract

significant repigmentation in vitiligo was reported with tofacitinib citrate treatment (Craiglow et al., 2015). A case of reversal of alopecia areata has been observed with baricitinib treatment (Jabbari et al., 2015). In summary, we demonstrate a substantial benefit from ruxolitinib therapy in a case of chilblain LE.Our observation supports the idea that JAK/STAT inhibition provides a promising therapeutic approach for the treatment of cutaneous autoimmune diseases, particularly LE.