Català A, Roé E, Vikkula M, Baselga E
Servicio de Dermatología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Actas Dermosifiliogr. 2013 Oct;104(8):710-3. doi: 10.1016/j.adengl.2012.04.025. Epub 2013 Aug 8.
Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with either arteriovenous malformations or arteriovenous fistulas in both the affected individual and other members of their family. We describe 2 new familial cases of this syndrome that were clinically and genetically diagnosed and studied in our hospital.
毛细血管畸形-动静脉畸形综合征是一种罕见的血管畸形类型，于2003年首次被描述。它是一种常染色体显性遗传性疾病，据报道与RASA1基因的杂合突变有关，该基因编码RASp21蛋白。临床表现为多个小的毛细血管畸形，在受累个体及其家族其他成员中与动静脉畸形或动静脉瘘相关。我们描述了在我院临床和基因诊断并研究的2例该综合征的新家族病例。
