Fasciano Danielle, Wei Shi, Li Rong, Siegal Gene P
Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, 35249, United States.
Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, 35249, United States.
Pathol Res Pract. 2018 Sep;214(9):1510-1513. doi: 10.1016/j.prp.2018.08.003. Epub 2018 Aug 7.
Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by craniofacial deformities and heterogeneous cardiac and cutaneous manifestations. The condition is caused by de novo activating mutations in one of four genes encoding proteins involved in the RAS-MAPK signaling pathway; specifically BRAF, MEK1, MEK2, or KRAS. Variable malignancies have been reported in patients with CFCS. Herein we report a chondroblastoma-like lesion of the skull in a 20-year-old man with a clinical diagnosis of CFCS and a long-standing history of medically intractable epilepsy. Patients with CFCS have previously been noted to have poorly-defined giant cell lesions and this may be one such example.
心脏-颜面-皮肤综合征（CFCS）是一种罕见的遗传性疾病，其特征为颅面畸形以及心脏和皮肤表现各异。该病症由参与RAS-MAPK信号通路的四种蛋白质编码基因之一的新发激活突变引起；具体为BRAF、MEK1、MEK2或KRAS。据报道，CFCS患者会出现多种恶性肿瘤。在此，我们报告一名20岁男性颅骨的软骨母细胞瘤样病变，其临床诊断为CFCS，并有长期药物难治性癫痫病史。此前已注意到CFCS患者存在边界不清的巨细胞病变，这可能就是其中一例。
