Cutaneous Clues to a Systemic Risk: Multiple Cutaneous Leiomyomas and Fumarate Hydratase Mutation

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ID: 321889
2026
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Abstract
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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openalex_W7170043854 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Sheryl Li Xin Lim, Naveen Sharma, Kok Ngan
Journal clinical and experimental dermatology
Year 2026
DOI
10.1093/ced/llag317
URL
https://doi.org/10.1093/ced/llag317
Keywords Keywords not found

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