期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 173, 期 2, 页码 338-351出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.38028
关键词
cerebral cavernous malformation; CCM; cutaneous cavernous malformation
资金
- A*STAR Research Attachment Programme
- Skin Research Institute of Singapore
- Wellcome Trust
- Dystrophic Epidermolysis Bullosa Research Association (DEBRA)
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability. Although the clinical course is unpredictable, symptoms typically present during adult life and include headaches, focal neurological deficits, seizures, and potentially fatal stroke. In addition to neural lesions, extraneural cavernous malformations have been described in familial disease in several tissues, in particular the skin. We here present seven novel FCCM families with neurologic and cutaneous lesions. We review histopathological and clinical features and provide an update on the pathophysiology of cerebral cavernous malformations and associated cutaneous vascular lesions. (c) 2016 Wiley Periodicals, Inc.
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