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Cutaneous venous malformations presenting in an adolescent boy: Cerebral cavernous malformation syndrome

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Cerebral cavernous malformations (CCM) are collections of enlarged capillaries with irregular structure, located in the brain or spinal cord, that can be life‐threatening. We describe a neurologically asymptomatic 15‐year‐old boy who presented with cutaneous venous malformations (CVM) that developed in adolescence. Owing to his family history of CCM, genetic testing was obtained and confirmed a new mutation in the CCM3 (PDCD10) gene. Brain imaging showed multiple CCM. Although currently asymptomatic, he will continue to be monitored annually by neurology to assess for symptoms of intracranial hemorrhage (ICH) that would warrant investigation with MRI.
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Keywords: cavernous; genetics; malformation; vascular

Document Type: Research Article

Publication date: September 1, 2020

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