Capillary Malformation-Arteriovenous Malformation Syndrome

被引：4

作者：

Alluhaibi, Razan ^{[1
]}

Alkhayat, Layan N. ^{[2
]}

Aqeeli, Wajd ^{[2
]}

机构：

[1] King Abdulaziz Hosp, Dermatol, Mecca, Saudi Arabia

[2] Umm Al Qura Univ, Dermatol, Mecca, Saudi Arabia

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2021年 / 13卷 / 01期

关键词：

rhodoid nevus; capillary malformations (cms); capillary malformations-arteriovenous malformation (cm-avm); rasa1; gene; rasp21; protein;

D O I：

10.7759/cureus.12562

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：4

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