Hereditary Esophageal-Vulvar Syndrome

Diffuse oesophageal leiomyomatosis

“…Our patient did not have any known personal or family history of Alport syndrome. Her history is significant, however, for bilateral congenital cataracts, which have been independently associated with oesophageal leiomyomatosis in some cases and may share some of the same genetic associations with Alport syndrome; however, in our patient, the renal function and urinary microscopy was normal . Whether isolated or in association, diffuse oesophageal leiomyomatosis remains a benign disorder .…”

“…1,2 It may also have an association with other gastrointestinal leiomyomata (particularly small intestine and rectal) along with widespread visceral leiomyomatatosis, tracheobronchial lesions and genital lesions in women, including clitoral hypertrophy and vulval leiomyomatosis, which constitutes the oesophagovulvar syndrome. 3,4 Oesophageal leiomyomatosis typically presents in children and young adults and is slightly more common in men. 2 Dysphagia and pain, as in our patient, are the most common presenting symptoms followed by weight loss, nausea and vomiting.…”

“…1,2 Partial or subtotal oesophageal resection is recommended, as in this case, as these tumours are often very large. [3][4][5] Standardized lymphadenectomy is not necessary given that malignant transformation does not occur. 5 Alport syndrome is a progressive, heterogeneous nephropathy characterized by the association of progressive haematuric nephritis, sensorineural deafness and variable ocular abnormalities (bilateral congenital cataracts, anterior lenticonus and macular flecks).…”

“…Oesophageal leiomyomatosis may occur sporadically or on a hereditary basis with autosomal dominant inheritance . It may also have an association with other gastrointestinal leiomyomata (particularly small intestine and rectal) along with widespread visceral leiomyomatatosis, tracheobronchial lesions and genital lesions in women, including clitoral hypertrophy and vulval leiomyomatosis, which constitutes the oesophagovulvar syndrome …”

“…Up to 50% of patients are asymptomatic at the time of diagnosis and are discovered incidentally, typically on a CXR, for another indication . Partial or subtotal oesophageal resection is recommended, as in this case, as these tumours are often very large . Standardized lymphadenectomy is not necessary given that malignant transformation does not occur …”