Cutis 2015-Nov
Cerebral cavernous malformations associated with cutaneous angiokeratomas and hemangiomas.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
We report the case of a 66-year-old man with adult-onset seizures and multiple cerebral cavernous malformations who developed numerous eruptive cutaneous angiokeratomas on the legs, scrotum, abdomen, and back as well as lobular and cavernous hemangiomas on the arms. Genetic analysis demonstrated a mutation in the KRIT1, ankyrin repeat containing gene (also known as CCM1).