Ovarian vascular malformation - clinical presentation of Cowden syndrome

We describe a case of a young girl diagnosed with vascular malformation of the left ovary and genetically confirmed Cowden syndrome.

Clinically, the girl had no gynecological problems, but there was swelling of the right knee after physical exercise. The predominant finding on imaging was a venolymphatic malformation arising from the musculus vastus medialis detected by magnetic resonance imaging. After puncture of the lesion, the biopsy specimen was subjected to genetic examination, which revealed a heterozygous PTEN gene mutation. This proved Cowden syndrome at the molecular level. At the same time, heterogeneous expansion in the region of the left ovary was described on magnetic resonance imaging. Based on staging, diagnostic laparoscopy with lavage was indicated. Perioperatively, multiple adhesions in the small pelvis and a tumor arising from the left ovary were detected. Partial resection of the left ovary was performed, and perioperative cryobiopsy confirmed a vascular malformation, with no concomitant findings of a benign tumor or malignancy. Definitive histological examination of the resected left ovary showed the presence of vascular malformations, which clinically corresponds to possible symptoms of Cowden syndrome.

Cowden syndrome is a rare genetic disorder whose diagnosis is based on clinical manifestations, imaging studies, and subsequent genetic testing. Follow-up of patients abides by the National Comprehensive Cancer Network recommendations and requires a multidisciplinary approach.