Senior Resident Peer-to-Peer Case Studies

June 2017 | Volume 16 | Issue 6 | Features | 628 | Copyright © June 2017


Thomas Lee MD, Julia Schwartz MD

.

AuthorsQuestion2Explanation/Literature ReviewThe clinical photos show multiple capillary malformations (CMs) and based on the information provided in the question stem, a diagnosis of Capillary Malformation-Arteriovenous Malformation (CM-AVM) should be suspected. CM-AVM is an autosomal dominant syndrome characterized by the presence of multiple characteristic CMs with or without the presence of arteriovenous malformations (AVMs). The majority of families with CM-AVM have a heterozygous mutation in the RASA1 gene, which is a negative regulator of Ras, a crucial signal transducer for VEG-F mediated angiogenesis. Although the penetrance of this condition is > 95%, the number of CMs and the presence of AVMs is variable among affected family members.The characteristic CMs are present at birth, multifocal, range from The correct answer is B: Magnetic resonance imaging of the brain and spineReferences1. Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. Pediatr Dermatol. 2013 Jul-Aug;30(4):409-15.2. Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), April 10, 2017. World Wide Web URL: https://omim.org/.