Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas

Abstract

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. In this article, the authors introduce a case of a young woman who presented with multiple, intermittently painful, cutaneous leiomyomas and a history of large uterine fibroids previously causing anemia and requiring surgical intervention. Further investigation revealed a family history of mutations in the fumarate hydratase gene. The patient is currently being monitored by the National Institutes of Health.

Figure 1

Renal ultrasound demonstrating multiple large uterine leiomyomas

Figure 2

Multiple firm, flesh-colored and pink papules and nodules in a cluster on the left shoulder. Of note, these lesions were all very painful to light touch and pressure.

Figures 3A and 3B

Microscopic features. A) Scanning magnification revealing poorly circumscribed nodules of eosinophilic spindle cells filling the dermis and extending into the subcutis (hematoxylin and eosin, original magnification 40x); B) higher magnification demonstrating fascicles of benign smooth muscle bundles without necrosis or nuclear atypia (hematoxylin and eosin, original magnification 100x)

Figures 3A and 3B

Microscopic features. A) Scanning magnification revealing poorly circumscribed nodules of eosinophilic spindle cells filling the dermis and extending into the subcutis (hematoxylin and eosin, original magnification 40x); B) higher magnification demonstrating fascicles of benign smooth muscle bundles without necrosis or nuclear atypia (hematoxylin and eosin, original magnification 100x)