Badeloe S, van Geel M, van Steensel M A M, Steijlen P M, Poblete-Gutiérrez P, Frank J A
Afd. Dermatologie, Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht.
Ned Tijdschr Geneeskd. 2007 Feb 3;151(5):300-4.
Multiple cutaneous and uterine leiomyomatosis (MCUL; OMIM 150800) is an autosomal dominantly inherited disease characterized by leiomyomas of the skin and uterine leiomyomas. MCUL can be associated with various types of renal cancer. This syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). Both disorders result from heterozygous germline mutations in the fumarate hydratase (FH) gene.
多发性皮肤和子宫平滑肌瘤病（MCUL；在线孟德尔人类遗传数据库编号150800）是一种常染色体显性遗传病，其特征为皮肤平滑肌瘤和子宫平滑肌瘤。MCUL可能与多种类型的肾癌相关。这种综合征被称为遗传性平滑肌瘤病和肾细胞癌（HLRCC；在线孟德尔人类遗传数据库编号605839）。这两种病症均由延胡索酸水合酶（FH）基因的杂合种系突变引起。
