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Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study
Author(s) -
Weitz Nicole A.,
Lauren Christine T.,
Behr Gerald G.,
Wu June K.,
Kandel Jessica J.,
Meyers Philip M.,
Sultan Sally,
AnyaneYeboa Kwame,
Morel Kimberly D.,
Garzon Maria C.
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12384
Subject(s) - medicine , arteriovenous malformation , retrospective cohort study , vascular malformation , pediatrics , institutional review board , broad spectrum , dermatology , surgery , combinatorial chemistry , chemistry
Capillary malformation–arteriovenous malformation syndrome ( CM ‐ AVM ) is an autosomal dominant disorder caused by RASA 1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CM s is challenging because associated AVM s can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM ‐ AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM ‐ AVM . We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CM s noted incidentally during routine skin examination. All demonstrated multiple CM s, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CM s; three had family histories of large, atypical CM s. Six had personal or family histories of AVM s. Genetic evaluation was recommended for all and was pursued by six families; four RASA 1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM ‐ AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CM s. This study is limited by its small and retrospective nature.