A Case Report of Difficult Diagnosis of a CLOVES Syndrome Patient

Abstract

 Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Scoliosis/Skeletal and Spinal anomalies (CLOVES) syndrome is a rare disease in which systemic overgrowth and vascular malformations are observed due to abnormalities of the PIK3CA gene. Treatment for intractable vascular malformations has been focused on symptomatic treatment; however, molecular-targeted drugs were recently found to be effective.
 CLOVES syndrome was not widely known initially. In the present case, a definitive diagnosis was not made, and it was difficult to control the patient's condition. However, with the subsequent cooperation of other departments, we initiated oral administration of sirolimus. Based on clinical findings and genetic testing results, a definitive diagnosis of CLOVES syndrome was eventually made. Our findings suggest the importance of cooperation among multiple departments from an early stage to diagnose and treat cases of intractable vascular malformations.