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Capillary Malformation-Arteriovenous Malformation Syndrome Guidelines

April 13, 2021 By Katherine Devenport


Project Lead:

Lara Wine Lee, MD, PhD
Medical University of South Carolina

Overview:

Patients diagnosed with Capillary Malformation – Arteriovenous Malformation Syndrome present with multiple, small, flat areas of red color change in their skin, known as capillary malformations. Some patients also have vascular malformations where the arteries and veins are not connected to one another properly. These vascular malformations can cause serious medical problems, including limb enlargement, heart problems, seizures, and even death. Unfortunately, there are currently no guidelines helping clinicians to uniformly diagnose or treat patients with this disease. The goal of our study is to review all the current research literature on this disease to create a guideline for physicians. We plan to answer questions such as what skin findings are necessary for diagnosis, when and how to order genetic testing, when to order imaging, whether imaging should be repeated, and how to treat patients with this syndrome.

Status:

This project was funded through a 2020 PeDRA Consensus Grant.

Filed Under: Birthmark Studies

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