Background: Extrauterine leiomyomata is an uncommon lesion that can lead to several problems of differential diagnosis, especially when localized in the external genitalia. There are few reports in the English literature and a novel association with Alport's syndrome has been investigated since the 1980s.
Case presentation: Here, we describe the case of a premenopausal woman who presented with an indolent swelling of the right interlabial fossa that resulted in a Bartholin cyst. In addition to this cyst, a benign leiomyoma of the right side of the clitoris was also found and removed. Our patient refused any further examination, although she was informed that genetic counselling could be organized to rule out an association with Alport's syndrome.
Conclusions: Extrauterine leiomyomata localized in the external genitalia is an uncommon lesion arising from smooth muscle cells around vascular epithelium or erectile tissue. Since an association between extrauterine leiomyomata and Alport's syndrome has been described, genetic testing can be proposed to these patients. Upper intestinal tract symptoms such as dysphagia should prompt a gastroenterological evaluation as an association with an esophageal leiomyomatosis has been described.
Keywords: Alport’s syndrome; Extrauterine leiomyoma; Vulvar lesions.