Hereditary esophageal-vulvar syndrome.
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.
Department of General, Visceral, and Cancer Surgery, University of Cologne, Cologne, Germany. alice_hoelscher@yahoo.de
Alice C
AC
Hoelscher
Arnulf H
AH
Hoelscher
Uta
U
Drebber
Marc
M
Bludau
Wolfgang
W
Schroeder
D000328:Adult; D001707:Biopsy, Needle; D003131:Combined Modality Therapy; D004938:Esophageal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D016629:Esophagectomy / Q000379:methods; D004945:Esophagoscopy / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007044:Hysterectomy / Q000379:methods; D007150:Immunohistochemistry; D018231:Leiomyomatosis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D010375:Pedigree; D035583:Rare Diseases; D018570:Risk Assessment; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D014844:Vulva / Q000473:pathology