Department of Dermatology and Maastricht University Center for Molecular Dermatology and GROW - School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands.
Eur J Dermatol. 2009 Nov-Dec;19(6):545-51. doi: 10.1684/ejd.2009.0749. Epub 2009 Jul 10.
Multiple cutaneous and uterine leiomyomatosis syndrome (MCUL; OMIM 150800) is an autosomal dominantly inherited tumor predisposition disorder, characterized by leiomyomas of the skin and uterus. When associated with kidney cancer, this syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). All disease variants result from heterozygous mutations in the fumarate hydratase (FH) gene. Cutaneous leiomyoma can easily be recognized and confirmed by histological examination. Recognition of these benign skin tumors can lead to the diagnosis of MCUL or HLRCC. Timely diagnosis is crucial for offering affected individuals and families potentially life-saving regular prophylactic screening examinations for renal tumors. Here we provide an overview of clinical and genetic features of this complex tumor syndrome and discuss patient management and current therapeutic strategies.
多发性皮肤和子宫平滑肌瘤病综合征（MCUL；OMIM 150800）是一种常染色体显性遗传的肿瘤易感性疾病，其特征为皮肤和子宫平滑肌瘤。当与肾癌相关时，该综合征被称为遗传性平滑肌瘤病和肾细胞癌（HLRCC；OMIM 605839）。所有疾病变异均由延胡索酸水合酶（FH）基因的杂合突变引起。皮肤平滑肌瘤可通过组织学检查轻松识别和确认。这些良性皮肤肿瘤的识别可导致 MCUL 或 HLRCC 的诊断。及时诊断对于为受影响的个体及其家族提供潜在的挽救生命的定期肾肿瘤预防性筛查检查至关重要。本文提供了该复杂肿瘤综合征的临床和遗传特征概述，并讨论了患者管理和当前治疗策略。
