Diffuse capillary malformation with overgrowth: A clinical subtype of vascular anomalies with hypertrophy

BackgroundCategorization of vascular anomalies with overgrowth is evolving rapidly with the aid of massively parallel genomic sequencing; however, accurate clinical diagnosis is still essential. We identified a group of patients with an extensive, diffuse, reticulate capillary malformation (CM) and variable hypertrophy without major complications.ObjectiveWe sought to study a subset of patients with diffuse CM to better define prognosis and management.MethodsChart review identified 73 patients with diffuse CM who did not fit the criteria for known disorders with CM and/or overgrowth.ResultsSoft-tissue or bony overgrowth did not correlate with location, morphology, or intensity of the vascular stain. Patients required periodic follow-up to monitor for leg length discrepancy. They were found to exhibit normal neurologic development and proportionate overgrowth rather than progressive, disproportionate asymmetry or vascular complications.LimitationsThis retrospective review was limited to observations documented at clinic visits; these patients require long-term assessment. Further studies are necessary to accurately assess Wilms tumor risk and clinical outcomes in older adults.ConclusionWe propose the term “diffuse capillary malformation with overgrowth” to designate this extensive reticular vascular staining with proportionate overgrowth. We differentiate diffuse capillary malformation with overgrowth from other disorders with CM and hypertrophy.