由非热点磷脂酰肌醇3-激酶催化亚基α突变引起的伴有半侧巨脑症和淋巴管畸形的面部浸润性脂肪瘤病
Facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations caused by nonhotspot phosphatidylinositol 3-kinase catalytic subunit alpha mutation.
作者信息
Chen Hongrui, Sun Bin, Gao Wei, Jia Hechen, Zhou Lucia, Hua Chen, Lin Xiaoxi
机构信息
Department of Plastic & Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
出版信息
Pediatr Dermatol. 2023 Nov-Dec;40(6):1115-1119. doi: 10.1111/pde.15346. Epub 2023 May 15.
We report an unusual case of facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations. In addition to the clinical data and imaging findings, detection of a heterozygous PIK3CA nonhotspot known pathogenic variant C420R in a facial epidermal nevus provided novel insight into the pathogenic effect of somatic PIK3CA mutations.
我们报告了一例罕见的面部浸润性脂肪瘤病合并半侧巨脑畸形和淋巴管畸形的病例。除了临床数据和影像学表现外，在面部表皮痣中检测到杂合性PIK3CA非热点已知致病变异C420R，这为体细胞PIK3CA突变的致病作用提供了新的见解。
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