Hereditary leiomyomatosis and renal cell cancer

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Disease Overview

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.[1497]


Synonyms

  • LRCC
  • HLRCC
  • Multiple cutaneous and uterine leiomyomata
  • MCUL
  • Reed's syndrome
  • Multiple cutaneous leiomyomata
  • MCL
  • Leiomyomatosis and renal cell cancer, hereditary
  • Familial leiomyomatosis and renal cell cancer
  • Familial leiomyomatosis cutis et uteri
  • Familial leiomyomatosis with renal carcinoma
  • Familial multiple cutaneous leiomyomas

For more information, visit GARD.

National Organization for Rare Disorders