1. Capillary Malformation-Arteriovenous Malformation Syndrome
- Author
-
Wajd Aqeeli, Razan Alluhaibi, and Layan N Alkhayat
- Subjects
Pathology ,medicine.medical_specialty ,Capillary malformation ,business.industry ,Vascular malformation ,General Engineering ,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION ,Dermatology ,030204 cardiovascular system & hematology ,medicine.disease ,capillary malformations-arteriovenous malformation (cm-avm) ,03 medical and health sciences ,0302 clinical medicine ,rasp21 protein ,medicine ,Nevus ,rhodoid nevus ,capillary malformations (cms) ,rasa1 gene ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2021