Inhabitual presentation of Sertoli-Leydig cell tumor of the ovary with xerodermapigmentosum: Case report with review of literature

Abstract Introduction Sertoli-Leydig cell tumors (SLCTs) are rare sex-cord stromal tumors of the ovary. Heterologous components may be present, most commonly in the intermediate differentiated and poorly differentiated groups. Because of their scarcity, SLCTs with heterologous differentiation represent a challenge in both diagnosis and management, with limited available experience. Presentation of case We report a case of a 27-year-old, Tunisian woman, followed in the Dermatology Department since the age of six months for xerodermapigmentosum, with a history of basal cell carcinoma of the face operated on several times. The patient presented with abdominal pain and bloating associated with a medium abundance ascites on physical exam. Ultrasound showed a large left adnexal mass associated with an elevated cancer antigen 125 on serological exam. The patient underwent unilateral salpingo-oophorectomy with resection of two omental nodules. Microscopic examination concluded to poorly differentiated Sertoli-Leydig tumor with rhabdomyomatous differentiation. Adjuvant chemotherapy was performed and there was no clinical evidence of tumor recurrence during the three years of follow-up. Discussion SLCTs with rhabdomyomatous differentiation on the setting of xerodermapigmentosum are exceptional, microscopic diagnosis and management is challenging, considering the tumor scarcity. Conclusion Further case reports and retrospective studies are required to more understand the pathogenesis of SLCTs and to determine their optimal treatment regimen.