51. Vulvar Leiomyoma: A Rare Sequela of Alport Syndrome

Diffuse leiomyomatous disease is a rare manifestation of Alport Syndrome. When identified, it has been associated with symptoms of reflux and dysphagia secondary to esophageal disease. There is scant published literature on genitourinary complaints in female patients with Alport Syndrome found to have leiomyomata in the genital tract outside of the uterine cavity.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research

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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...
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Achalasia is an extremely rare pathology in children. Peroral endoscopic myotomy (POEM) is the gold standard for the surgical treatment of achalasia in adults, but only a limited number of cases of achalasia treatment using POEM in children have been published in the literature. Sometimes, high-resolution manometry signs of achalasia can mimic diffuse esophageal leiomyoma. This case report represents the first known successful performance of POEM on a 15-year-old female with diffuse thickening of the esophagus with signs and symptoms of achalasia and suspicion for Alport syndrome associated with diffuse esophageal leiomyom...
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