达里埃病
达里埃病
医学
疾病
皮肤病科
曲美替尼
生物
内科学
MAPK/ERK通路
细胞生物学
激酶
作者
Diego Soto‐García,P. Dávila‐Seijo,Carlota González‐Moure,A. Pampín,Ander Zulaica,F. Allegue,I. García‐Doval
摘要
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.
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