Cutaneous Leiomyomas: A Clinical Marker of Risk for Hereditary Leiomyomatosis and Renal Cell Cancer

Introduction

Cutaneous leiomyomas are a prominent marker of hereditary leiomyomatosis and renal cell cancer (HLRCC). Their appearance, symptoms, and pathology aid in recognition of HLRCC. Presence raises caution, due to potentially associated uterine leiomyomas and aggressive renal cell cancer. Screening for HLRCC is recommended for individuals with multiple cutaneous leiomyomas.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) (Online Mendelian Inheritance in Man [OMIM] 605839) is the autosomal dominant predisposition to the development of leiomyomas (smooth muscle tumors) of the skin and/or uterus (uterine fibroids) and/or the occurrence of renal cell carcinoma (RCC). The genetic susceptibility of the syndrome has recently been identified at the molecular level with limited epidemiology reported.

Cutaneous leiomyomas are benign neoplasms. Diagnosis serves to recognize those individuals who may be at risk for HLRCC, with potentially aggressive renal cell cancer and debilitating uterine fibroids. Due to the rare occurrence of cutaneous leiomyomas, their presence has been an important link to clinically identifying a potential HLRCC-affected patient. In this article, the current available epidemiology, clinical findings, and management of the cutaneous manifestations of HLRCC and its genetics will be highlighted. The aim is to provide a basis for awareness of HLRCC through clinical and patient education.