Hereditary Leiomyomatosis and Renal Cell Cancer: Do You Know This Syndrome?

Case Report

J Pathol & Microbiol. 2016; 1(1): 1001.

Hereditary Leiomyomatosis and Renal Cell Cancer: Do You Know This Syndrome?

Laura C Gironi¹*, Barbara Pasini², Pamela Farinelli¹, Francesca Zottarelli¹, Barbara Ferrando², Guido Valente¹ and Enrico Colombo¹

¹Department of Clinical and Experimental Medicine, University of Piemonte Orientale, Italy

²Department of Medical Sciences, University of Turin, Italy

*Corresponding author: Dr Gironi LC, Dermatology Clinic, Department of Clinical and Experimental Medicine, University of Piemonte Orientale, Amedeo Avogadro, Corso Mazzini 18 28100 Novara, Italy

Received: November 14, 2015; Accepted: January 29, 2016; Published: February 01, 2016

Abstract

The Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare genodermatosis caused by heterozygous mutations in the fumarate hydratase gene (FH, Chromosomal Locus 1q42.1). This tumor predisposition syndrome is characterized by young onset of cutaneous leiomyomata (that arise from the erector pilorum muscle), uterine leiomyomas and/or renal cell carcinoma (‘type 2’ papillary renal cancer or collecting duct carcinoma). Other tumors such as uterine and cutaneous leiomyosarcoma, ovarian mucinous cystadenoma, adrenal cortical adenomas, Leydig cell tumors of the testis and benign renal cysts have been described in FH mutation carriers.

Here we report the case of a 29 year old Caucasian girl carrier of HLRCC phenotype confirmed by histological and genetic analysis.

Keywords: Hereditary leiomyomatosis and renal cell cancer; Cutaneous leiomyomatosis; Fumarate hydratase; Familial cancer syndrome

Case Presentation

We describe the case of a 29 years old Caucasian girl who came to our attention for several nodular lesions involving extremities and trunk. Physical dermatological examination showed about 40-50 skin-colored to light brown firm nodular elements distributed mainly over the upper and lower limbs without tendency to confluence; few elements were also visible on the trunk. The patient reported that the lesions are painful especially during winter and in response to pressure. Skin lesions arose during adolescence and gradually increased in number and size.

Clinical features of skin lesions led us to the hypothesis of multiple cutaneous leiomyomas. Therefore, after proper informed consent, we performed an excisional biopsy for diagnostic confirmation. Histology features allowed a diagnosis of piloleiomyoma, an uncommon benign skin neoplasm arising from the smooth muscles of erector pilorum muscle; it presents as skin-colored to reddish-brown dermal papules or nodules, which may range from one to hundreds elements (Figure 1a and 1b). When a solitary single lesion is present, it might represents a sporadic, non familial condition; conversely, in presence of multiple piloleiomyomas the hypothesis of inherited cutaneous leiomyomatosis, (specifically Hereditary Leiomyomatosis and Renal Cell Cancer - HLRCC) must be taken into account [1]. HLRCC is an autosomal-dominant hereditary syndrome caused by heterozygous mutations in the fumarate hydratase gene (FH, Chromosomal Locus 1q42.1). This genodermatosis predisposes to develop multiple, symptomatic piloleiomyomas, uterine fibroids in young women and early onset renal tumors which can progress and metastasize, even if they are small- sized [1-3].