Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder resulting from mutations in the fumarate hydratase (FH) gene. It is characterised by a predisposition to cutaneous and uterine leiomyomas (fibroids) and an aggressive form of renal cell carcinoma (RCC). We report the case of a 53-year-old female who presented with an unusual rash in the context of a personal and family history of uterine leiomyomas requiring hysterectomy. A skin biopsy confirmed cutaneous leiomyomas and subsequent genetic testing demonstrated a pathogenic heterozygous mutation on exon 7 of the FH gene, confirming a diagnosis of HLRCC. Due to the recognised association with renal cell carcinoma in this syndrome, abdominal imaging was performed, which excluded RCC, and the patient was commenced on lifelong surveillance with annual abdominal magnetic resonance imaging.
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| http://dx.doi.org/10.7759/cureus.48783 | DOI Listing |
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