| Title |
Identifying hereditary leiomyomatosis and renal cell cancer through unobtrusive cutaneous nodules: a clinical report / |
| Authors |
Šeštokaitė, Emilija ; Preikšaitienė, Eglė ; Arasimavičius, Justas |
| DOI |
10.15586/jkc.v12i1.374 |
| Full Text |
|
| Is Part of |
Journal of kidney cancer and VHL.. Brisbane. 2025, vol. 12, iss. 1, p. [1-4].. ISSN 2203-5826 |
| Keywords [eng] |
fumarate hydratase ; HLRCC ; hereditary renal cell cancer ; leiomyomatosis ; renal cell carcinoma |
| Abstract [eng] |
Cutaneous leiomyomas (CLMs) are associated with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome (Mendelian Inheritance in Man [MIM]: 150800)—a rare genodermatosis caused by a heterozygous pathogenic variant in the fumarate hydratase (FH) gene. It is characterized by a predisposition to develop cutaneous and/or uterine leiomyomas and an aggressive type of renal cell carcinoma (RCC). We describe a 27-year-old male who presented with a painful nodule on the left upper arm persisting for 5 years and the subsequent emergence of painless nodules in various parts of the body over the past two years. A family history of RCC prompted suspicion of the HLRCC syndrome. Cutaneous examination revealed erythematous subcutaneous nodules, with histological analysis confirming CLM. Genetic testing identified a pathogenic variant in the FH gene, confirming the diagnosis of HLRCC. Management involved surgical excision of the symptomatic nodules and genetic counselling/testing for the proband and his family members. The long-term follow-up plan includes dermatological and nephrological surveillance with annual renal magnetic resonance imaging (MRI) scans. This report aims to enhance the awareness of this disease and highlight the role of cutaneous lesions in facilitating early detection. |
| Published |
Brisbane |
| Type |
Journal article |
| Language |
English |
| Publication date |
2025 |
| CC license |
|
