Familial cylindromatosis

Definition:

Familial cylindromatosis is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation.

References:

[1]. Ans M W van den Ouweland, et al. Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. Fam Cancer. 2011 Mar;10(1):127-32. [Content Brief]

[2]. J P Alameda, et al. CYLD regulates keratinocyte differentiation and skin cancer progression in humans. Cell Death Dis. 2011 Sep 8;2(9):e208. [Content Brief]

[3]. P J Biggs, et al. Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. Nat Genet. 1995 Dec;11(4):441-3. [Content Brief]

[4]. Sarah Bowen, et al. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol. 2005 May;124(5):919-20. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.