Reed’s Syndrome

Multiple cutaneous and uterine leiomyomatosis (MCUL), 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 carcinoma (RCC) and have been determined to have mutations in the fumarate hydratase (FH) gene. In individuals or families without RCC, the syndrome may be referred to as multiple cutaneous leiomyomatosis (MCL) or MCUL. The term hereditary leiomyomatosis and RCC (HLRCC) refers to families with an increased prevalence of smooth muscle tumors and RCC as a result of the FH genetic defect. Since cutaneous leiomyomas are not exceptionally common, their presence—whether single or in multiplicity—should raise suspicion of underlying uterine leiomyomas and the possibility of real disease. Increased clinical awareness is important due to the association between coexisting cutaneous and systemic diseases.