Varol Alexandra, Stapleton Karen, Roscioli Tony
Department of Dermatology, Liverpool Hospital, New South Wales, Australia.
Australas J Dermatol. 2006 Nov;47(4):274-6. doi: 10.1111/j.1440-0960.2006.00294.x.
A 55-year-old woman presented with multiple cutaneous leiomyomas and multiple uterine leiomyomas (fibroids). The clinical diagnosis of the autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome was confirmed by identification of a fumarate hydratase gene mutation. This case highlights the need to consider the possibility of renal and uterine cancer in members of cutaneous leiomyomatosis families.
一名55岁女性患有多发性皮肤平滑肌瘤和多发性子宫平滑肌瘤(纤维瘤)。通过鉴定延胡索酸水合酶基因突变,确诊为常染色体显性遗传性平滑肌瘤病和肾细胞癌(HLRCC)综合征。该病例强调了皮肤平滑肌瘤病家族成员需要考虑患肾癌和子宫癌的可能性。