Hereditary leiomyomatosis and renal cell cancer

Anders Würgler Hansen*, Zahraa Chayed, Kristine Pallesen, Ileana Codruta Vasilescu, Anette Bygum

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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Hereditary leiomyomatosis and renal cell cancer is a genodermatosis with an autosomal dominant inheritance pattern. It is a tumour predisposition syndrome characterized by cutaneous and uterine leiomyomas, and increased susceptibility to develop renal cell carcinoma. There are 200–300 families with hereditary leiomyomatosis and renal cell carcinoma reported worldwide, but the syndrome is believed to be underdiagnosed. Cutaneous leiomyomas are small smooth muscle tumours that tend to grow over time. Larger lesions, in particular, can cause pain or itching. Uterine leiomyomas have a high penetrance in women with hereditary leiomyomatosis and renal cell cancer. They frequently cause symptoms, and surgical intervention is often necessary. Hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas have a high potential to metastasize. Patients are diagnosed by genetic testing if a pathogenic mutation is demonstrated in the gene encoding fumarate hydratase. Immunohistochemistry may be a useful diagnostic approach in patients without a detectable pathogenic mutation. Diagnosed patients should be monitored for renal tumours in a lifelong surveillance programme.

Original languageEnglish
Article numberadv00012
JournalActa Dermato-Venereologica
Issue number1
Number of pages7
Publication statusPublished - 7. Jan 2020


  • Cancer surveillance
  • Cutaneous leiomyomas
  • Hereditary leiomyomatosis
  • Renal cell carcinoma
  • Uterine leiomyomas

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