-
Actas Dermosifiliogr · Oct 2013
Case ReportsCapillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.
- A Català, E Roé, M Vikkula, and E Baselga.
- Servicio de Dermatología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: acatala@santpau.cat.
- Actas Dermosifiliogr. 2013 Oct 1; 104 (8): 710-3.
AbstractCapillary 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. Copyright © 2011 Elsevier España, S.L. and AEDV. All rights reserved.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..