Schimmelpenning Syndrome: An Association with Vascular Anomalies

Abstract

Objective: Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with seizures, developmental delay, and ocular or skeletal pathology. Vascular anomalies also have been described in this condition, and some authors have suggested that the two entities are associated. The purpose of this study was to determine the prevalence of vascular anomalies in Schimmelpenning syndrome. Methods: We reviewed the medical records of patients with Schimmelpenning syndrome who were evaluated or were managed at Children's Hospital Boston between 1980 and 2005. In addition, all published cases purported to be Schimmelpenning syndrome were analyzed to determine whether the primary diagnosis was accurate and whether or not there were concurrent vascular anomalies. Results: Three of nine patients (33.3%) in our series had a vascular malformation. One patient had coarctation, aortic aneurysm, renal artery, and carotid stenosis; another had a thoracic lymphatic anomaly with chylothorax; and the third had lymphedema of the lower extremities and lymphatic malformation of the neck/chest with chylothorax. Additional findings were seizures (78%), ocular pathology (78%), developmental delay (56%), and skeletal abnormalities (67%). Of 119 cases of authenticated Schimmelpenning syndrome in the literature, 18 vascular malformations were documented in 15 patients (12.6%): venous (n = 7); arterial (n = 5); lymphatic (n = 3); capillary (n = 2); and arteriovenous (n = 1). Conclusions: Vascular malformations occur with a higher frequency (12.6 to 33%) in patients with Schimmelpenning syndrome compared with the general population (<1%). Therefore, we conclude that there is an association between vascular anomalies and Schimmelpenning syndrome.