Cutaneous Leiomyoma: A Clinical Study of 152 Patients

Abstract

<b><i>Background:</i></b> Cutaneous leiomyoma (CL) is a benign smooth muscle tumour included in painful skin tumours. Multiple CLs are cutaneous markers of hereditary leiomyomatosis and renal cell cancer (HLRCC). <b><i>Objectives:</i></b> To retrospectively review our series of patients with CLs to analyse their clinical features and the association with HLRCC. <b><i>Methods:</i></b> Cases coded as CL in the database of the pathology department between 2004 and 2019 were included in the study. Medical records were retrospectively reviewed to obtain the following data: age, sex, location, number of lesions, diameter, evolution time at diagnosis, suspected clinical diagnosis, tenderness, status of resection margins, development of recurrence, follow-up time, and association with HLRCC. <b><i>Results:</i></b> 152 patients had CLs, 89 women and 63 men, mean age 56.26, SD 16.030 years. Subtypes were piloleiomyoma in 62 patients, angioleiomyoma in 80, and genital leiomyoma in 10. All of our 11 patients with multiple lesions corresponded to piloleiomyomas, and HLRCC was confirmed in 8 of them (73%). Patients with HLRCC were younger than patients with piloleiomyomas without HLRCC (34.88 vs. 56.17 years, <i>p</i> = 0.009). Vascular and genital leiomyomyomas were solitary and were not associated with HLRCC. <b><i>Conclusion:</i></b> In patients with multiple piloleiomyomas HLRCC must be ruled out as it is confirmed in a high proportion of cases. The probability of fumarate hydratase mutation is greater in multiple piloleiomyomas involving both the trunk and upper extremities in the same patient.

Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer

“…HLRCC patients with stage III cancer show the worst progression-free survival and overall survival rates [ 8 ]. It has been reported that HLRCC patients were confirmed in 8 of 11 patients with multiple piloleiomyomas (73%) [ 9 ], which was highly frequent. Patients with leiomyomas without HLRCC were older than patients with HLRCC (56 vs. 34 years, p = 0.009) [ 9 ].…”

Genodermatoses – Opportunities for Early Detection and Cancer Prevention

“…The prevalence of HLRCC is estimated at 1 in 200,000 [6], and penetrance is unknown [4]. HLRCC presents dermatologically with non-malignant smooth muscle tumours surrounding hair follicles, called multiple pilar leiomyomas or piloleiomyomas [7]. Piloleiomyomas appear as reddish-brown or flesh-coloured, tender or non-tender firm papules or nodules which may be sensitive to pressure or cold [7].…”

“…HLRCC presents dermatologically with non-malignant smooth muscle tumours surrounding hair follicles, called multiple pilar leiomyomas or piloleiomyomas [7]. Piloleiomyomas appear as reddish-brown or flesh-coloured, tender or non-tender firm papules or nodules which may be sensitive to pressure or cold [7]. They predominantly occur on the trunk and limbs, along the lines of Blaschko, or adopting linear, segmental or zosteriform patterns [7].…”

“…Piloleiomyomas appear as reddish-brown or flesh-coloured, tender or non-tender firm papules or nodules which may be sensitive to pressure or cold [7]. They predominantly occur on the trunk and limbs, along the lines of Blaschko, or adopting linear, segmental or zosteriform patterns [7]. The age-related prevalence of cutaneous leiomyomas in HLRCC is 78% to age 75, occurring at a mean age of 45.9 years [6].…”

“…The age-related prevalence of cutaneous leiomyomas in HLRCC is 78% to age 75, occurring at a mean age of 45.9 years [6]. Around 73% of patients with multiple piloleiomyomas harbour a detectable pathogenic variant in FH, whilst single, vascular (angioleiomyomas) and genital leiomyomas are not usually associated with HLRCC [7]. Cutaneous leiomyosarcoma has been reported in five individuals with HLRCC to date [8,9].…”