Service de Dermatologie, Université de Montpellier 1, CHU Montpellier, Montpellier, France.
Br J Dermatol. 2010 Dec;163(6):1337-9. doi: 10.1111/j.1365-2133.2010.09912.x.
Multiple cutaneous and uterine leiomyomatosis (MCUL)/hereditary leiomyomatosis and renal cell cancer (HLRCC) (OMIM 150800/OMIM 605839) is a rare hereditary disorder leading to the development of benign cutaneous and uterine smooth muscle tumours in young adults.(1,2) This disease is characterized by an increased risk of developing renal cell carcinomas.(3) It results from dominantly inherited autosomal mutations in the fumarate hydratase (FH) gene.(4) This gene encodes a Krebs cycle enzyme, present in both cytosolic and mitochondrial compartments, and probably acts as a tumour suppressor gene. We report a 22-year-old man affected by cutaneous leiomyomatosis associated with cutis verticis gyrata, disseminated collagenoma and Charcot-Marie-Tooth disease, who was harbouring the novel FH gene mutation c.821C > T, p.Ala274Val.
多发性皮肤和子宫平滑肌瘤病（MCUL）/遗传性平滑肌瘤病和肾细胞癌（HLRCC）（OMIM 150800/OMIM 605839）是一种罕见的遗传性疾病，可导致年轻成年人发生良性皮肤和子宫平滑肌肿瘤。(1,2) 这种疾病的特征是发生肾细胞癌的风险增加。(3) 它是由延胡索酸水合酶（FH）基因的显性遗传常染色体突变引起的。(4) 该基因编码一种三羧酸循环酶，存在于细胞质和线粒体两个隔室中，可能作为肿瘤抑制基因发挥作用。我们报告了一名 22 岁的男性，患有皮肤平滑肌瘤病，伴发头皮回旋状曲发、弥漫性胶原瘤和 Charcot-Marie-Tooth 病，他携带有 FH 基因突变 c.821C > T，p.Ala274Val。
