Suppr超能文献

毛细血管畸形-动静脉畸形综合征

Capillary Malformation-Arteriovenous Malformation Syndrome.

作者信息

Alluhaibi Razan, Alkhayat Layan N, Aqeeli Wajd

机构信息

Dermatology, King Abdulaziz Hospital, Makkah, SAU.

Dermatology, Umm Al Qura University, Makkah, SAU.

出版信息

Cureus. 2021 Jan 7;13(1):e12562. doi: 10.7759/cureus.12562.

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant inherited rare type of vascular malformation encountered in a neonate and first described in 2003. It has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. In 2010, a German doctor proposed rhodoid nevus as a name for this type of capillary malformation; in ancient Greek, rhodoides means "rose-like" or "rose-colored." Accordingly, CM-AVM could also be called "rhodoid nevus syndrome." We report this case as its very challenging diagnosis with its further differentials and its association with thrombocytopenia.

摘要

毛细血管畸形 - 动静脉畸形(CM - AVM)是一种常染色体显性遗传的罕见血管畸形,于新生儿中出现,2003年首次被描述。据报道,它与RASA1基因的杂合突变有关,该基因编码RASp21蛋白。2010年,一位德国医生提议将类玫瑰痣作为这种毛细血管畸形的名称;在古希腊语中,rhodoides的意思是“玫瑰样”或“玫瑰色”。因此,CM - AVM也可被称为“类玫瑰痣综合征”。我们报告该病例,因其诊断极具挑战性,有进一步的鉴别诊断,且与血小板减少症有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c5f/7793427/fb7bd26136a8/cureus-0013-00000012562-i01.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验