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

[Diffuse esophageal leiomyomatosis and Alport's syndrome: A case report and review of the literature].
Ann Pathol. 2018 Oct 12;:
Authors: Delteil C, Macagno N, Daniel L, D'Journo XB, Guisiano S, Garcia S, Secq V
Abstract
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.
PMID: 30322718 [PubMed - as supplied by publisher]

Source: Annales de Pathologie - October 12, 2018 Category: Pathology Authors: Delteil C, Macagno N, Daniel L, D'Journo XB, Guisiano S, Garcia S, Secq V Tags: Ann Pathol Source Type: research