A 48 year-old woman with a history of fibroids presents with asymptomatic skin lesions. Biopsy reveals cutaneous leiomyomas and subsequent genetic evaluation confirms the diagnosis of hereditary leiomyomatosis and renal cell cancer. In this report, we review the typical presentation of the syndrome as well as recommendations for surveillance.
On annual examination, a 48 year old perimenopausal G0 diagnosed with uterine fibroids nearly a decade previously mentioned noticing several asymptomatic, unchanging pink bumps on her arms, torso, and legs 2 months previously. She was otherwise healthy and on oral contraceptive pills. Her mother and sister had uterine fibroids diagnosed at age 30 years. Examination revealed 8 light pink 3-5 mm firm, oval, discrete dermal papules on her dorsal forearms, left flank, and anterior thighs ( Figure 1 , A). The remainder of the physical examination was unremarkable. A dermatologist performed a biopsy, which revealed cutaneous leiomyoma ( Figure 1 , B and C).
Comment
Given her rare dermatological diagnosis and uterine fibroids, a genetic evaluation was done on the patient, which revealed a pathogenic missense mutation in fumarate hydratase leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC). Two years after the diagnosis, she underwent a hysterectomy because of increased fibroid size ( Figure 2 ). Surgical pathology demonstrated multiple benign leiomyomas.
