Predisposition (familial leiomyomatosis)

 mutation in the gene encoding fumarate hydratase (FH) (MIM.136850)

• hereditary multiple cutaneous leiomyoma mutation in the gene encoding fumarate hydratase (FH) (MIM.136850)
• hereditary leiomyomatosis and renal cell cancer syndrome (MIM.605839)

 in multiple endocrine neoplasia type 1 (MEN1) (83% of 11q13 LOH) (#11549605#)

• multiple leiomyomas of the esophagus, lung, and uterus

 COL4A6 deletions in diffuse leiomyomatosis (MIM.308940) with X-linked Alport syndrome at Xq22.3 (MIJM.301050)

Localization

 cutaneous leiomyomatosis
 digestive leiomyomatosis

• oesophageal leiomyomatosis

 intraveinous leiomyomatosis
 peritoneal leiomyomatosis