Case report reveals cutaneous leiomyomas indicating systemic cancer risk in a woman with FH mutation, suggesting genetic counseling is vital.
We report a 64-year-old woman with a long history of multiple painful cutaneous nodules, histologically confirmed as pilar leiomyomas, in the context of a positive family history. Genetic testing identified a pathogenic fumarate hydratase (FH) mutation, confirming hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. This case highlights the importance of recognising cutaneous leiomyomas as a potential early marker of a systemic cancer predisposition syndrome requiring genetic counselling and renal surveillance.
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Lim et al. (2026) studied this question.
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