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  • Title: Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report.
    Author: Lan MY, Liu YF, Huang CC, Peng CH, Liu JS, Chang YY.
    Journal: Clin Neurol Neurosurg; 2010 Oct; 112(8):729-32. PubMed ID: 20646827.
    Abstract:
    Cavernous malformations (CMs) of the central nervous system can occur in a sporadic condition or as a familial form with an autosomal-dominant inherited pattern. Apart from a family history, some clinical features may help to identify familial CMs. We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial CMs. A genetic study confirmed a nonsense mutation (c.1708A>T) in the KRIT1 gene.
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