Ovarian fibromatosis and sotos syndrome with a new genetic mutation

Abstract

Background: Sotos syndrome is one the most common overgrowth conditions, after Beckwith-Wiedemann syndrome. As with other overgrowth syndromes, Sotos syndrome can be associated with an increased risk of tumors.

Case: We describe a young girl with Sotos syndrome and ovarian fibromatosis with a new mutation not reported before in the literature.

Summary and conclusion: Development of ovarian tumor in Sotos syndrome has been poorly documented. Ovarian fibromatosis is a very rare non neoplastic disease. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma.