Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.
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.
Servicio de Dermatología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: acatala@santpau.cat.
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D001164:Arteriovenous Fistula / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D001165:Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics; D002196:Capillaries / Q000002:abnormalities*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019468:Disease Management; D004621:Embolization, Therapeutic; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D008279:Magnetic Resonance Imaging; D009928:Organ Specificity; D010375:Pedigree; D019339:Port-Wine Stain / Q000175:diagnosis* / Q000235:genetics; D020729:p120 GTPase Activating Protein / Q000235:genetics
C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein
Arteriovenosa; Arteriovenous; Capilar; Capillary; Fistula; Fístula; Malformación; Malformation; RASA1; RASp21; p120RasGAP