Multiple cutaneous and uterine leiomyomata

Definition:

Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and from uterine fibroids in female patients. Some patients with MCUL develop renal cancer and this condition is called hereditary leiomyomatosis and renal cell cancer.

References:

[1]. F Rongioletti, et al. A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). Dermatology. 2010;221(4):378-80. [Content Brief]

[2]. N A Alam, et al. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet. 2003 Jun 1;12(11):1241-52. [Content Brief]

[3]. Teruhiko Makino, et al. Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis. J Dermatol Sci. 2007 Nov;48(2):151-3. [Content Brief]

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