Hereditary esophageal-vulvar syndrome

Abstract

This article describes an esophageal leiomyomatosis in mother and daughter. A 33-year-old woman with cardiovascular symptoms was admitted to the hospital. Her mother at a young age had undergone an esophagectomy because of a leiomyosarcoma. The daughter received a diagnosis of diffuse leiomyomatosis of the esophagus and uterus. Because of its size, transthoracic esophagectomy with gastric reconstruction and a hysterectomy were performed. Histopathologic examination of the specimens confirmed the diagnosis of esophageal and uterine leiomyomatosis. These findings are characterized as the esophageal-vulvar syndrome, which is known to occur sporadically.