Review of familial cerebral cavernous malformations and report of seven additional families

Ivo J. H. M. de Vos (Lead / Corresponding author), Maaike Vreeburg, Ger H. Koek, Maurice A. M. van Steensel

    Research output: Contribution to journalReview article

    13 Citations (Scopus)

    Abstract

    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. © 2016 Wiley Periodicals, Inc.

    Original languageEnglish
    Pages (from-to)338-351
    Number of pages14
    JournalAmerican Journal of Medical Genetics Part A
    Volume173
    Issue number2
    Early online date28 Oct 2016
    DOIs
    Publication statusPublished - 28 Oct 2016

    Keywords

    • cerebral cavernous malformation
    • CCM
    • cutaneous cavernous malformation

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