FH Tumour Predisposition Syndrome, also known as Hereditary Leiomyomatosis and renal cell cancer (HLRCC), or Reed Syndrome, is an autosomal dominant condition clinically characterized by multiple cutaneous leiomyomas, multiple early-onset uterine leiomyomas and early-onset renal cell cancer. Here we report a young female with FH Tumour Predisposition Syndrome with no clinical features except early-onset uterine leiomyomas. Whilst there is a significant history of uterine leiomyomas in her family, there is no history of cutaneous leiomyomas or renal cell cancer (RCC). Uterine leiomyomatosis in young adults may represent a narrow phenotypic variant of FH Tumour Predisposition Syndrome. It is important that young women who present with multiple leiomyomata or leiomyomata with atypical features are referred for molecular genetic testing.

FH肿瘤易感综合征，也称为遗传性平滑肌瘤病和肾细胞癌（HLRCC）或里德综合征，是一种常染色体显性遗传疾病，临床上以多发性皮肤平滑肌瘤、多发性早发性子宫肌瘤和早发性肾细胞癌为特征。在这里，我们报告了一名患有 FH 肿瘤易感性综合征的年轻女性，除了早发性子宫平滑肌瘤外，没有其他临床特征。虽然她的家族中有大量子宫平滑肌瘤病史，但没有皮肤平滑肌瘤或肾细胞癌 (RCC) 病史。年轻成人的子宫平滑肌瘤病可能代表 FH 肿瘤易感综合征的狭窄表型变异。重要的是，患有多发性平滑肌瘤或具有非典型特征的平滑肌瘤的年轻女性被转诊进行分子遗传学检测。