Article
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.
JAMA dermatology - 1 Feb 2020
Greco Céline, Leclerc-Mercier Stéphanie, Chaumon Sarah, Doz François, Hadj-Rabia Smail, Molina Thierry, Boucheix Claude, Bodemer Christine
Abstract excerpt
Importance: Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment. It is most often caused by mutations in the transient receptor potential vanilloid 3 (TRPV3) gene. In animal models and keratinocyte cell lines, TRPV3 signaling leads to epidermal growth factor receptor (EGFR) transactivation....
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