Dermatology Question of the Week: Medical Mysteries
Question:
A 36-year-old female presents to the clinic for evaluation of multiple bumps on her shoulder that become painful in cold weather.
You perform a biopsy which shows a dermal proliferation of spindle cells. Her family history is unknown but she does report a history of painful uterine fibroids which have previously been surgically removed. Which of the following malignancies is the patient most at risk for?
Answer choices:
A. Breast cancer
B. Thyroid cancer
C. Leukemia
D. Uterine cancer
E. Renal cancer
Rationale:
The clinical image above is consistent with multiple leiomyomas. Cutaneous leiomyomas typically present as reddish-brown papulonodules commonly occurring on the face, back, and extensor surfaces of the extremities. Pain can sometimes be elicited by cold or gentle touch and is reported in approximately 90% of patients. Cutaneous leiomyomas are derived from the arrector pili muscle.
Correct answer: E. Renal cancer
Hereditary leiomyomatosis and renal cell cancer (HLRCC), also known as Reed syndrome, is an autosomal dominant cancer syndrome in which patients develop uterine leiomyomas, cutaneous leiomyomas, and aggressive renal cell carcinoma. It is associated with germline mutations in the fumarate hydratase gene. Although leiomyomas can develop spontaneously, the presence of multiple cutaneous leiomyomas should raise suspicion for Reed syndrome; patients should have genetic testing and be screened regularly for renal cell carcinoma as the lifetime risk of developing renal cell cancer in patients with HLRCC is 15%.
Incorrect answers: A, B, C, D
HLRCC is not associated with malignancies of the breast, thyroid, blood, or uterus.
Additional reading at Chapter 121: Neoplasias and Hyperplasias of Muscular and Neural Origin
I am a general dermatologist practicing at an academic medical center in Danville, PA. I see both adult and pediatric patients and also perform various surgical procedures. I have a special interest in Hidradenitis Suppurativa (HS) and am the founder of our HS specialty clinic where we treat patients medically and surgically (deroofing, excision, staged CO2 excision with marsupialization, Nd:YAG). I am actively involved in resident education and am passionate about medical education. Additional interests include autoimmune bullous disorders, dermatomyositis, and procedural dermatology.
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