遗传性皮肤病
达里埃病
达里埃病
医学
内质网
疾病
皮肤病科
遗传增强
曲美替尼
角化不良
病理
癌症研究
角化过度
基因
生物
遗传学
MAPK/ERK通路
信号转导
作者
Diego Soto‐García,P. Dávila‐Seijo,Carlota González‐Moure,A. Pampín,Ander Zulaica,F. Allegue,I. García‐Doval
摘要
Darier disease 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 male with severe Darier disease who demonstrated a positive response to trametinib after multiple unsuccessful therapies.
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