Capillary malformation-arteriovenous malformation

Definition:

Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF). CMs in this syndrome usually present at birth, and are progressive, round to oval, pink or red, and with a pale halo.

References:

[1]. Iiro Eerola, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003 Dec;73(6):1240-9. [Content Brief]

[2]. Margarita Larralde, et al. Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. Int J Dermatol. 2014 Apr;53(4):458-61. [Content Brief]

[3]. Mustapha Amyere, et al. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048. [Content Brief]

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