200 - Dental Management of ELMO2-Associated Arteriovenous Malformations

Abstract:

Introduction: Engulfment and Cell Motility 2 (ELMO2) gene is a protein that facilitates cell movement and maintains vascular integrity in intramembranous bones. Mutations in ELMO2 gene are associated with development of arteriovenous (AV) malformation, a condition defined as an abnormal connection between the artery and vein. Loss-of-function mutation in the ELMO2 gene is a rare, autosomal-recessive disorder characterized by non-neoplastic expansions of blood vessels, notably in the vertebral column and skull. The most affected bones in the skull are in the maxilla and mandible. Individuals affected by this mutation typically present with progressive bone expansion, facial deformities, and have high risk of severe bleeding.



Case Report: This presentation outlines a 5-year-old male who was referred to Children’s Hospital Los Angeles with a chief complaint of spontaneous gingival bleeding. This patient’s medical history is significant for vascular malformation (ELMO2 mutation), autism, anemia, and history of a stroke. Current medications include iron supplements. The patient has no reported known drug allergies. The patient has a significant history of preemptive embolizations and multiple visits to the emergency department due to severe, life-threatening spontaneous bleeding. Clinical evaluation shows displacement of primary dentition associated with mandibular expansion. Radiographic evaluation reveals irregular opacities attributed to previous interventional radiology (IR) embolizations. This case report highlights the clinical and radiographic findings associated with an ELMO2 mutation, the management approach, and multidisciplinary collaboration across various specialties.

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