- Human pathology

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Thursday 22 September 2016



- hereditary leiomyomatosis and renal cell cancer syndrome (Reed syndrome )

  • Multiple cutaneous and uterine leiomyomatosis, also known as Reed’s syndrome, is an autosomal dominant genetic condition.
  • Affected individuals have an increased predisposition to develop benign smooth muscle tumors (leiomyomas) in the skin and uterus. Affected females frequently develop uterine leiomyomas (fibroids) that are larger and more numerous and emerge earlier than those in the general population.
  • Subsets of these patients are at risk for renal cell cancer and have been determined to have mutations in the fumarate hydratase gene. In individuals or families without renal cell cancer, the syndrome may be referred to as multiple cutaneous leiomyomatosis or multiple cutaneous and uterine leiomyomatosis.
  • The term "hereditary leiomyomatosis and renal cell cancer" refers to families with an increased prevalence of smooth muscle tumors and renal cell cancer as a result of the fumarate hydratase genetic defect.


- intravenous leiomyomatosis
- peritoneal leiomyomatosis