ArticleAnais brasileiros de dermatologia2017
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Article in Anais brasileiros de dermatologia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Renal cell carcinoma risk among individuals heterozygous for fumarate hydratase variants: further insights into genotype-phenotype correlations.Hereditary cancer in clinical practice · 2026Article
- Identifying Hereditary Leiomyomatosis and Renal Cell Cancer through Unobtrusive Cutaneous Nodules: A Clinical Report.Journal of kidney cancer and VHL · 2025Article
- A Case of Recurrent Multiple Uterine Fibroids Associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC): Insights into Fumarate Hydratase (FH) Deficiency.International journal of women's health · 2025Article
- Multiple cutaneous and uterine leiomyomatosis: Reed's syndrome.BMJ case reports · 2024Article
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7 authors.
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Abstract
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.
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