{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:38:03Z","timestamp":1770903483796,"version":"3.50.1"},"reference-count":18,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2009]]},"abstract":"<i>Background:<\/i> Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Although often asymptomatic, seizures, cerebral haemorrhages and focal neurological deficits are well-documented complications. Mutations in the <i>CCM1<\/i> (7q21\u201322), <i>CCM2<\/i> (7p13\u201315) and <i>CCM3<\/i> (3q25.2\u201327) genes have been identified in familial CCM. In rare instances, the association of congenital hyperkeratotic cutaneous capillary-venous malformations (HCCVMs) with <i>CCM1<\/i> has been reported. <i>Observations:<\/i> We studied 6 members of a family with CCMs. Four members of the family developed late-onset multiple, tiny, bluish, soft, cutaneous papules, mainly located on the face, arm and abdominal area, corresponding histologically to venous malformations. A splice donor site mutation in intron 4 (c. 1146 + 1 G\u2192A) in the <i>CCM1<\/i> gene was identified. <i>Conclusions:<\/i> Our findings suggest that mutations in the <i>KRIT1<\/i> gene may cause phenotypically heterogeneous cutaneous vascular lesions other than those previously described as HCCVMs.<\/jats:p>","DOI":"10.1159\/000199461","type":"journal-article","created":{"date-parts":[[2009,1,30]],"date-time":"2009-01-30T14:33:44Z","timestamp":1233326024000},"page":"307-313","source":"Crossref","is-referenced-by-count":36,"title":["Cutaneous Venous Malformations in Familial Cerebral Cavernomatosis Caused by <i>KRIT1<\/i> Gene Mutations"],"prefix":"10.1159","volume":"218","author":[{"given":"Agust\u00ed","family":"Toll","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabet","family":"Parera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana M.","family":"Gim\u00e9nez-Arnau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Pou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep","family":"Lloreta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nisha","family":"Limaye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon M.","family":"Pujol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,1,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3171%2Fjns.2002.97.1.0227"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410210609"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F9.9.1351"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.10804"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F7.12.1851"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1086%2F426952"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2006.041079"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1161%2F01.STR.0000198835.49387.25"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320420319"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.1996.tb03616.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2F1531-8249%28199902%2945%3A2%3C250%3A%3AAID-ANA17%3E3.0.CO%3B2-V"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2007.07978.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-510X%2802%2900031-X"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410030522"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1177%2F089198870201500102"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.32.3.197"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1086%2F339492"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F8.12.2325"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/199461","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/199461","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T23:29:07Z","timestamp":1745450947000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000199461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000199461","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009]]}}}