Hereditary Leiomyomatosis and Renal Cell Cancer, when the skin warns us

Abstract

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare genodermatosis characterized by multiple cutaneous leiomyomas, uterine myomas, and a potential association with papillary renal cell carcinoma. We present a case of a 59-year-old woman diagnosed with HLRCC based on the presence of multiple cutaneous piloleiomyomas and a fumarate hydratase (FH) gene deletion. The patient had undergone hysterectomy for uterine myomas two years earlier.Histological examination confirmed piloleiomyomas, and genetic testing revealed a FH gene deletion consistent with HLRCC. No treatment was required for the asymptomatic cutaneous lesions. The patient underwent screening for renal cell carcinoma, showing no neoplasms after three years.FH mutations are important in HLRCC etiology, causing a pseudohypoxic state promoting tumorigenesis. Uterine leiomyomas are common in HLRCC, occurring earlier than sporadic cases, while cutaneous leiomyomas exhibit distinct characteristics.Management involves ruling out neoplasms, genetic counseling, and annual imaging for early detection. Imaging preferences include contrast-enhanced computed tomography or gadolinium-enhanced magnetic resonance for renal screening. This case underscores the importance of a multidisciplinary approach to HLRCC emphasizing skin examination for early detection and management.