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).
Lekwuttikarn R, Lim YH, Admani S, Choate KA, Teng JMC. Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child. JAMA Dermatol. Published online December 19, 2018. doi:10.1001/jamadermatol.2018.4653
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