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Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management

Authors

  • Charisse M. Orme M.D., Ph.D.,

    1. Department of Internal Medicine, School of Medicine, Yale University, New Haven, Connecticut
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    • These authors contributed equally to this work.
  • Lynn M. Boyden Ph.D.,

    1. Department of Genetics, School of Medicine, Yale University, New Haven, Connecticut
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    • These authors contributed equally to this work.
  • Keith A. Choate M.D., Ph.D.,

    1. Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut
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  • Richard J. Antaya M.D.,

    1. Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut
    2. Department of Pediatrics, School of Medicine, Yale University, New Haven, Connecticut
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  • Brett A. King M.D., Ph.D.

    Corresponding author
    1. Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut
    • Department of Internal Medicine, School of Medicine, Yale University, New Haven, Connecticut
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Address correspondence to Brett A. King, Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT 06520, or e-mail: brett.king@yale.edu.

Abstract

Capillary malformation–arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation−arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition.

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