Therapeutics: Nuclear factor (erythroid-derived 2)-like 2 (NFE2L2; NRF2)

Patient sample and mouse studies suggest the NFE2L2 activator sulforaphane could help treat pachyonychia congenita, which is caused by mutations in keratin-encoding genes. In patient skin samples, levels of phosphorylated NFE2L2 were lower than in skin samples from healthy volunteers. In a mouse model of pachyonychia congenita, topical application of sulforaphane decreased skin lesions and epidermal thickening compared with topical vehicle. Next steps could include testing sulforaphane in other models of pachyonychia congenita...