Trametinib as a promising therapy for Darier disease: case report
Darier disease (DD) is a rare autosomal-dominant genodermatosis caused by mutations in the ATP2A2 gene, which encodes sarco-endoplasmic reticulum calcium ATPase 2 (SERCA2). This leads to impaired intercellular adhesion and epidermal blistering. We report the case of a 25-year-old man with severe DD who demonstrated a positive response to trametinib after multiple unsuccessful therapies.
Authors
- A. Pampín (ORCID: https://orcid.org/0000-0002-3573-4704)
- Diego Soto‐García (ORCID: https://orcid.org/0000-0001-6559-3108)
- I. García‐Doval (ORCID: https://orcid.org/0000-0002-6881-5260)
- P. Dávila‐Seijo (ORCID: https://orcid.org/0000-0001-5820-8961)
- F. Allegue (ORCID: https://orcid.org/0000-0001-7979-9844)
- Carlota González‐Moure (ORCID: https://orcid.org/0000-0002-3333-6040)
- Ander Zulaica
Institutions
- University Hospital Complex Of Vigo (ES)
- Complexo Hospitalario Universitario A Coruña (ES)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1093/bjd/ljaf160
- Citations
- 2
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 3.63