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BACKGROUND Perineal and genitourinary vascular malformations are rare and often misdiagnosed. Without treatment they can affect urinary, sexual, reproductive and psychological function. Some vascular anomalies can also be associated with concomitant genitourinary defects such as PELVIS syndrome (perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) that can complicate the timing of surgical resection. This reported experience is one of the largest cohort reviewed, including both males and females. Our goal was to review the experience at our institution with genitourinary vascular anomalies, and discuss how the diagnosis and management approach has changed over time.
METHODS Retrospectively reviewed 89 cases of genitourinary vascular anomalies managed at Seattle Children’s Hospital from 1977 -2013 (17 cases from 1977-2004, 22 cases from 2005-9, 30 cases from 2010-14). We analyzed the initial presentation, accuracy of the referring diagnosis, and approach to management including observation, medical therapy or surgical treatment. We also evaluated follow-up, recurrence rates, and long-term outcomes, comparing our historical cohort to current cohorts to evaluate trends.
RESULTS Of the 89 patients, 64 female and 25 male, the primary presenting diagnoses were vascular malformation (n=25) and vascular hemangioma (infantile, congenital) (n=14). Of the single vessel type vascular malformations there were venous (n=6), capillary (n=4), and lymphatic (n=5) subtypes. Thirty-two patients presented with single lesions the primary locations, perineum (n=32), labia (n=26), scrotum (n=5), and penis (n=2). Thirteen patients presented with multiple diffuse lesions, secondary locations included the face (n=4), chest (n=4), and extremities (n=8). Cases were associated with diagnoses of Klippel Trenaunay Syndrome (n=2), rapidly involuting congenital hemangioma (RICH) (n=2), cutis marmorata (n=1), and macrocephaly-capillary malformation (M-CM) syndrome (n=1). Each patient is carefully evaluated with imaging, diagnosed appropriately, and with close follow-up appropriate treatment regimen is determined. Comparison of current to historical cohorts, medical therapies with propranolol and sirolimus have replaced surgical treatment options as durable, safe, effective alternatives.
CONCLUSIONS Early treatment for vascular anomalies is standard, but there has been a shift away from surgical resection to medical management as the mainstay of treatment over the study period. Our long-term outcomes over with this change in management have shown good results with low recurrence rate.