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December 19, 2018

Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child

Author Affiliations
  • 1Division of Pediatric Dermatology, Department of Dermatology, Stanford University School of Medicine, Stanford, California
  • 2Section of Dermatology, Division of Ambulatory and Adolescent Medicine, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • 3Department of Dermatology, Yale School of Medicine, New Haven, Connecticut
  • 4Department of Pathology, Yale School of Medicine, New Haven, Connecticut
  • 5Department of Genetics, Yale School of Medicine, New Haven, Connecticut
JAMA Dermatol. Published online December 19, 2018. doi:10.1001/jamadermatol.2018.4653

Arteriovenous malformations (AVMs) are the most difficult-to-manage congenital vascular malformations. They are often associated with significant morbidity and even mortality. Herein we report a child with an AVM that responded well to genotype-guided trametinib treatment.

An 11-year-old girl presented with a congenital mass on her back that had been growing since she was 3 years old. She reported intermittent discomfort, especially when she slept and exercised. Physical examination revealed a 17 × 12-cm, compressible, warm, vascular mass overlying the left scapular region (Figure 1A). Radioimaging, including magnetic resonance imaging (MRI), and clinical evaluation were consistent with an AVM. The patient had initially been treated with systemic sirolimus, which was well tolerated with only intermittent oral ulcers. However, despite systemic treatment with sirolimus at a therapeutic dose for 8 months (trough levels, 10-15 ng/dL), the AVM progressed (Figure 1B).

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