The Journal of investigative dermatology
Proteomics Reveals Altered Lipid Biosynthesis and Keratin Hyperphosphorylation in Pachyonychia Congenita.
Sara Ceccacci, Kevin Roger, Lucile Marchal, Hélène Ragot, Janice Schwartz, Pierre A Coulombe, Ida Chiara Guerrera, Alain Hovnanian
Published: 202610.1016/j.jid.2026.01.011
Abstract
Pachyonychia congenita (PC) is a rare and painful skin disorder caused by dominant pathogenic variants in keratin genes (KRT6A/KRT6B/KRT6C/KRT16/KRT17), with no effective treatment. We developed a scalable, in-depth and miniaturized MS-based proteomi…
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