[From gene to disease; cutaneous leiomyomatosis].
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.
Badeloe
S
S
Afd. Dermatologie, Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht. sbad@sder.azm.nl
van Geel
M
M
van Steensel
M A M
MA
Steijlen
P M
PM
Poblete-Gutiérrez
P
P
Frank
J A
JA
D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D007889:Leiomyoma / Q000235:genetics; D018231:Leiomyomatosis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics