HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

By Gary M. White, MD

Hereditary Leiomyomatosis Multiple red papules representing leiomyomas and a biopsy site.


Hereditary leiomyomatosis and renal cell cancer (HLRCC), also known as Reed Syndrome, is an AD inherited condition caused by mutations in the fumarate hydratase gene. It is associated to a high degree with uterine leiomyomas in females and the risk of renal carcinoma in both sexes. Leiomyomas or piloleiomyomas are rare benign tumors of smooth muscle origin. They may be solitary as well.

Clinical

Red-brown, smooth, firm papules or nodules grouped together are characteristic of multiple leiomyomas. They may number from several to hundreds and may be distributed linearly or within a dermatome. Rarely, they may be bilateral and multisegmental. Leiomyoma may be quite painful. The pain may be spontaneous or secondary to cold, pressure, or emotion.

Treatment

Genetic testing is indicated. Referral to a nephrologist and ongoing monitoring for renal carcinoma is important. Women should be informed of the association with uterine leiomyomas and followed by a gynecologist.

For the cutaneous leiomyomas, various treatments are available. In milder cases, camouflage alone or surgical excision with skin grafting may be indicated. For painful lesions, avoidance of triggers, e.g. cold is suggested. Oral agents that have been used to reduce the pain include nifedipine (e.g. 10-30 mg TID), phenoxybenzamine (an alpha adrenoreceptor blocker e.g. 10 mg BID), gabapentin, pregabalin [Dermatology Online Journal 21(9)], hydrobromide, and nitroglycerin. Carbon dioxide laser ablation therapy of multiple cutaneous leiomyomas resulted in continued pain relief [Dermatol Surg 2000;26:319-22]. Botox injection every 3 months worked well in one case but a randomized study of 18 patients showed only mild benefit [JAMA Derm 2015;151;1096].

Additional Pictures

Two different patients with multiple lesions on the legs.
Hereditary Leiomyomatosis Hereditary Leiomyomatosis Hereditary Leiomyomatosis

References

Multiple papules on the cheek. Indian J Dermatol 2010;55:337-41

Grouped papules on the back. Indian J Dermatol 2015;60:293-5

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