Feb 2019 Annales de pathologie

[Diffuse esophageal leiomyomatosis and Alport’s syndrome: A case report and review of the literature].

Auteurs

Delteil C, Macagno N, Daniel L, D'Journo XB, Guisiano S, Garcia S, Secq V

Résumé

Diffuse esophageal leiomyomatosis is a rare esophageal tumor characterized by circumferential thickening of smooth muscle layers. Diffuse esophageal leiomyomatosis can be associated with Alport’s syndrome and therefore diagnosed by skin biopsy. Alport syndrome is a hereditary disease usually defined by the association of glomerular nephropathy and perceptual deafness. Here we describe the management of a young women with a diffuse esophageal leiomyomatosis and a past history of uterine leiomyoma. The surgical treatment depends on the esophageal extent of the disease. Association between diffuse esophageal leiomyomatosis and early uterine leiomyomas could be also observed and leading to Alport’s syndrome diagnosis despite the absence of renal abnormalities.

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