Hereditary leiomyomatosis and renal cell cancer syndrome

Hereditary leiomyomatosis and renal cell cancer, usually shortened to HLRCC, is an inherited tumor predisposition disorder. People with it tend to grow benign smooth muscle tumors called leiomyomas in the skin, which typically appear in the third decade of life as skin-colored or darker bumps that can be painful or sensitive to cold and light touch, and most women also develop numerous large uterine fibroids at an earlier age than is usual. About 10 to 16 percent of affected people develop a kidney cancer called renal cell cancer, most often diagnosed in their forties. HLRCC is caused by mutations in the FH gene, which makes the citric acid cycle enzyme fumarase, and it is inherited in an autosomal dominant pattern. Roughly 300 families have been reported worldwide, and the disorder may be underdiagnosed. Older names for the skin and uterine form alone include multiple cutaneous and uterine leiomyomatosis and Reed syndrome.