Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations | Zendy

Céline Greco | Zendy; Stéphanie LeclercMercier | Zendy; S. Chaumon | Zendy; François Doz | Zendy; S. HadjRabia | Zendy; Thierry Jo Molina | Zendy; Claude Boucheix | Zendy; Christine Bodemer | Zendy

Open Access

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations

Author(s) -

Céline Greco,

Stéphanie LeclercMercier,

S. Chaumon,

François Doz,

S. HadjRabia,

Thierry Jo Molina,

Claude Boucheix,

Christine Bodemer

Publication year - 2020

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2019.4126

Subject(s) - medicine , erlotinib , palmoplantar keratoderma , erlotinib hydrochloride , transactivation , epidermal growth factor receptor , genodermatosis , keratoderma , hyperkeratosis , gene mutation , dermatology , oncology , cancer , mutation , transcription factor , gene , biochemistry , chemistry

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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