Familial Cylindromatosis

Common Name(s)

Familial Cylindromatosis, Turban tumor syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Cylindromatosis" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Cylindromatosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Cylindromatosis" returned 7 free, full-text research articles on human participants. First 3 results:

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
 

Author(s): Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, Ana Mercedes Victoria Martínez, Juan José Vilata Corell, Alfredo Montoro Botella, Goitzane Marcaida Benito, Raquel Rodríguez López, Tomas Vanecek, Dmitry V Kazakov, Joan N R Kromosoeto, Ans M W van den Ouweland, János Varga, Márta Széll, Nikoletta Nagy

Journal:

 

Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The ...

Last Updated: 10 Feb 2016

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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
 

Author(s): Ans M W van den Ouweland, Peter Elfferich, Roy Lamping, Raoul van de Graaf, Monique M van Veghel-Plandsoen, S M Franken, A C Houweling

Journal: Fam. Cancer. 2011 Mar;10(1):127-32.

 

Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. To date, only technologies which are able to identify small point mutations in CYLD, such as sequence and WAVE analysis, ...

Last Updated: 10 Feb 2011

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Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
 

Author(s): Sarah Bowen, Melissa Gill, David A Lee, Galen Fisher, Roy G Geronemus, Marialuisa Espinel Vazquez, Julide Tok Celebi

Journal: J. Invest. Dermatol.. 2005 May;124(5):919-20.

 

Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct entities, share overlapping clinical findings. Patients with BSS are predisposed to multiple skin appendage tumors such as cylindroma, trichoepithelioma, ...

Last Updated: 27 Apr 2005

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Cylindromatosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.