{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:47:10Z","timestamp":1758818830939},"reference-count":27,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,8]]},"abstract":"<jats:p content-type=\"fine-print\">\u2713 The simultaneous presence of cavernous malformations in the brain and spinal cord is a very rare finding and is typically associated with familial cavernous malformations. Although they are uncommon, various skin lesions can manifest in patients with familial cavernous malformations. The authors report on a 60-year-old man in whom more than 100 lesions consistent in appearance with cavernous malformations, including several intramedullary spinal cord lesions, were found throughout the neuraxis. This patient also displayed prominent caf\u00e9-au-lait skin lesions, but had no additional signs of neurofibromatosis or other neurocutaneous disorders. Analysis of his DNA revealed a novel mutation in the <jats:italic>KRIT1\/CCM1<\/jats:italic> gene, thereby confirming the diagnosis of familial cavernous malformation. The presence of these lesions in every major compartment of this patient's central nervous system underscores their indiscriminate nature and the need to screen throughout the neuraxis in patients in whom familial cavernous malformations are suspected. The findings in this case add to the growing list of skin lesions associated with genetically confirmed familial cavernous malformations. In patients presenting with seizures, focal neurological deficits, or hemorrhagic stroke, the presence of unusual skin lesions should prompt consideration of familial cavernous malformations, and appropriate screening should be performed.<\/jats:p>","DOI":"10.3171\/jns.2003.99.2.0412","type":"journal-article","created":{"date-parts":[[2009,5,13]],"date-time":"2009-05-13T17:53:44Z","timestamp":1242237224000},"page":"412-415","source":"Crossref","is-referenced-by-count":10,"title":["Widespread central nervous system cavernous malformations associated with caf\u00e9-au-lait skin lesions"],"prefix":"10.3171","volume":"99","author":[{"given":"Kiran","family":"Musunuru","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virany Huynh","family":"Hillard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raj","family":"Murali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Neurosurgery","first-page":"179","article-title":"Mixed vascular malformations of the brain: clinical and pathogenetic considerations.","volume":"33","author":"Awad","year":"1993"},{"key":"b2","series-title":"Harrison's Principles of Internal Medicine","first-page":"315","article-title":"Skin manifestations of internal disease","author":"Bolognia","year":"2001"},{"key":"b3","series-title":"Neuroradiology","first-page":"110","article-title":"Multiple occult vascular malformations of the brain and spinal cord: MRI diagnosis.","volume":"34","author":"Bourgouin","year":"1992"},{"key":"b4","series-title":"J Neurol Sci","first-page":"91","article-title":"Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.","volume":"96","author":"Chen","year":"2002"},{"key":"b5","series-title":"J Neurosurg","first-page":"964","article-title":"Cherry angiomas associated with familial cerebral cavernous malformations. 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Incidence and familial occurrence.","volume":"319","author":"Rigamonti","year":"1988"},{"key":"b20","series-title":"Hum Mol Genet","first-page":"2325","article-title":"Mutations in the gene encoding KRIT1, a Krev-1\/rap1a binding protein, cause cerebral cavernous malformations (CCM1).","volume":"8","author":"Sahoo","year":"1999"},{"key":"b21","series-title":"Oncogene","first-page":"1043","article-title":"Association of Krev1\/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22.","volume":"15","author":"Serebriiskii","year":"1997"},{"key":"b22","series-title":"Neurology","first-page":"853","article-title":"Cerebral cavernous malformations: mutations in Krit1.","volume":"58","author":"Verlaan","year":"2002"},{"key":"b23","series-title":"Am J Hum Genet","first-page":"1564","article-title":"Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.","volume":"70","author":"Verlaan","year":"2002"},{"key":"b24","series-title":"J Neurosurg Sci","first-page":"229","article-title":"Cavernous angiomas of the central nervous system.","volume":"33","author":"Villani","year":"1989"},{"key":"b25","series-title":"Neurosurgery","first-page":"30","article-title":"Patients with spinal cord cavernous malformations are at an increased risk for multiple neuraxis cavernous malformations.","volume":"45","author":"Vishteh","year":"1999"},{"key":"b26","series-title":"J Neurosurg","first-page":"133","article-title":"Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report.","volume":"93","author":"Wakabayashi","year":"2000"},{"key":"b27","series-title":"Proc Staff Meet Mayo Clin","first-page":"249","article-title":"Cavernous hemangiomatosis involving the brain, spinal cord, heart, skin, and kidney: report of case.","volume":"32","author":"Wood","year":"1957"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/99\/2\/article-p412.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/99\/2\/article-p412.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/99\/2\/article-p412.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,19]],"date-time":"2023-03-19T23:56:01Z","timestamp":1679270161000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/99\/2\/article-p412.xml"}},"subtitle":["Case report"],"short-title":[],"issued":{"date-parts":[[2003,8]]},"references-count":27,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3171\/jns.2003.99.2.0412","relation":{},"ISSN":["0022-3085"],"issn-type":[{"value":"0022-3085","type":"print"}],"subject":[],"published":{"date-parts":[[2003,8]]}}}