HLRCC is an autosomal dominant disorder.
Signs and symptoms
- Leiomyomata (benign tumours from smooth muscle tissue; singular: leiomyoma) characterise HLRCC. HLRCC leiomyomata occur on the skin and uterus. Skin (cutaneous) leiomyomata may resemble a rash; they are usually light brown or skin-coloured and appear on the trunk, extremities and face. Uterine leiomyomata are also known as uterine fibroids, but these are prevalent in the general population and so are not sufficient for an HLRCC diagnosis.
- Increased risk of renal tumours; 10-16% of individuals with HLRCC develop renal tumours. Type 2 Papillary tumours are the most common, which can be very aggressive and may metastasise quickly. The tumours are often single rather than multi-focal.
- Increased risk of uterine leiomyosarcoma (cancerous tumours of smooth muscle tissue), but this seems to be very rare and the proportion of affected HLRCC patients is unknown. This cancer is aggressive if not treated early.
Diagnosis
- An accurate diagnosis is available by genetic testing, as a gene associated with HLRCC has been identified.
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