A 50-year-old woman presents with multiple asymptomatic to painful, erythematous, rubbery dermal nodules with smooth surfaces on her left leg. These lesions developed when the patient was 25 years old. They were particularly painful in the cold winter months. Size and number of the lesions gradually increased. She had a history of severe menorrhagia when she was 30 years old, which resulted in hysterectomy in her 40s.

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER

Hereditary leiomyomatosis and renal cell cancer (HLRCC), also known as Reed Syndrome, is an AD inherited condition caused by mutations in the fumarate hydratase (FH) 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.

• Cutaneous leiomyomas are benign tumors derived from smooth muscle of the skin.
• Most patients with HLRCC have mutations in the gene that encodes fumarate hydratase, a protein that converts fumarate to malate in the Kreb cycle of the mitochondrial matrix.
• Renal cell carcinoma has been estimated to occur in 10-16% of patients with HLRCC.

In a retrospective study of 13 cases of Reed's syndrome by Congros et al, there were 10 women and 3 men with multiple CLs. The mean age at diagnosis was 53 years (range: 36-76 years) and the mean age of onset was 40 years (range: 14-53 years). The most common presentation was Type 2 segmental involvement and the most common histologic subtype was piloleiomyoma (in 12 of 13 patients). Nine (90%) of the ten women required hysterectomy for uterine fibroids before the diagnosis of MCUL. Out of the nine patients screened for renal involvement, four had renal lesions (cysts, calculi, or adrenal nodule). No evidence of renal cell carcinoma was detected.

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.

Evoked Darier sign (transient piloerection/pseudo-Darier Sign) as a distinctive finding in cutaneous leiomyomas. To perform the test, gently stroke the leiomyoma and look for induration and erythema 1 minute after.

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