Cutaan leiomyoom van de tepel: ook denken aan hereditaire leiomyomatose en niercelcarcinoom

Cutaneous leiomyoma of the nipple and exclusion of hereditary leiomyomatosis renal cell cancer Cutaneous leiomyomas are rare, benign tumors of the smooth muscle tissue. Leiomyomas present as firm, smooth, skin-colored to erythematous or hyperpigmented papulonodular lesions from 2 to 20 mm; solitary or grouped. They are often associated with itchiness or pain. Multiple cutaneous leiomyomas can be associated with hereditary leiomyomatosis and renal cell cancer (HLRCC). This syndrome constitutes a predisposition for cutaneous leiomyomas, uterine leiomyomas and renal cell carcinomas. The combination of only cutaneous and uterine leiomyomas is called Reed’s Syndrome. We discuss the case of a 42-year-old female with a painful nodulus on the right nipple for 2 years. Positive immunohistochemical staining for smooth muscle actin (SMA) and desmin confirmed the diagnosis leiomyoma. There was no loss of fumarate hydratase expression on immunostaining. Ultrasound of pelvis and abdomen and transvaginal ultrasound showed no apparent kidney or uterine leiomyomas. Genetic testing for HLRCC was planned. The importance in recognizing cutaneous leiomyomas lies in being able to screen for HLRCC. Patients with HLRCC should have screening and lifelong surveillance for uterine leiomyomas and renal cell cancer.