Sturge-Weber syndrome: soft-tissue and skeletal overgrowth

Abstract

Sturge-Weber syndrome (SWS) is characterized by capillary malformation, glaucoma, leptomeningeal vascular anomalies, and variable facial overgrowth. The purpose of this study was to document the prevalence and morbidity of facial hypertrophy in 2 cohorts: group 1, surveyed patients registered in the SWS Foundation, and group 2, patients treated at our Vascular Anomalies Center. Predictive variables included age, sex, region of capillary stain, and ocular or cerebral involvement. Outcome variables were soft-tissue and bony overgrowth, as well as the type of operative correction. In group 1, the response rate to our questionnaire was 29.3% (108/368). Facial overgrowth was documented in 60.0% of patients. Soft-tissue hypertrophy was present in 55.0%; the lip (81.0%) was the most commonly affected site. Skeletal hypertrophy was reported in 22% of patients; the maxilla (83.0%) was the most frequently overgrown bone. Overall, 23.0% of patients (36.5% with overgrowth) had an operation: 34.0% of patients with soft tissue hypertrophy and 9.0% with skeletal enlargement. In group 2, 47 patients with SWS were treated at our center: 83% had facial overgrowth, either a localized cutaneous lesion (18.0%), soft-tissue enlargement (70.0%), or bony hypertrophy (45.0%). As in group 1, the lip (75.0%) and maxilla (94.0%) were the most commonly enlarged structures. Operations were necessary for localized cutaneous lesions (86.0%), soft-tissue hypertrophy (53.0%), or skeletal overgrowth (11.0%). In conclusion, facial hypertrophy is a major component of SWS; these patients should be counseled about the risk of overgrowth and about the types of possible operative correction.