Abstract
Introduction: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by germline heterozygous mutations of the fumarate hydratase (FH) gene. Materials and Methods: A retrospective observational study was conducted, aimed at characterizing the clinical features, histopathology, and genetic mutations in eighteen patients with confirmed HLRCC diagnosis. Results: FH gene mutations were identified in the seven families studied, including a previously undescribed mutation. All index cases of the families included were suspected on skin manifestations. Thirteen of the 18 patients (72%) presented cutaneous leiomyomas. The chief complaint was pain, with complete but transient response to botulinum toxin in one. No evidence of malignant transformation was observed. Uterine leiomyomas were present in seven of the eight women studied (88%). There was no evidence of renal cell carcinoma in any of the patients in the study. The most frequently found mutations were missense type (43%), followed by large rearrangements (24%), intronic deletions (14%) and nonsense (14%). A novel mutation not previously described in the literature is presented. Conclusions: HLRCC is a rare disease but it is also probably underdiagnosed. Dermatologists have an essential role in its diagnosis, by recognizing the clinical characteristics of the syndrome and investigating the family history.
Published Version
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