Brooke-Spiegler syndrome

Common Name(s)

Brooke-Spiegler syndrome

Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brooke-Spiegler syndrome" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brooke-Spiegler syndrome" for support, advocacy or research.

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Brooke-Spiegler syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

Brooke-Spiegler syndrome.
 

Author(s): Joshua Trufant, Maria Robinson, Rishi Patel

Journal:

 

A 50-year-old woman presented with a long history of multiple, flesh-colored papules and nodules on her central face, neck, and upper shoulders, as well as pink papules on her scalp. They were neither pruritic nor tender, but the patient desired treatment for cosmesis. Histopathologic ...

Last Updated: 4 Jan 2013

Go To URL
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome.
 

Author(s): Savita Chaudhary, Surabhi Dayal

Journal:

 

Brooke-Spiegler syndrome is an uncommon disease. Patients have a predisposition to develop cutaneous adnexal neoplasms such as cylindromas, trichoepitheliomas, spiradenomas, trichoblastomas, basal cell carcinomas, follicular cysts, and organoid nevi. Malignant transformation of preexisting ...

Last Updated: 5 Sep 2012

Go To URL
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis.
 

Author(s): Sirkku Peltonen, Minna Kankuri-Tammilehto

Journal: Acta Derm. Venereol.. 2013 Jan;93(1):112-3.

 

Last Updated: 10 Jan 2013

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brooke-Spiegler syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
 

Author(s): Patrick W Blake, Jorge R Toro

Journal: Hum. Mutat.. 2009 Jul;30(7):1025-36.

 

Germline mutations in the cylindromatosis (CYLD) gene have been described in families with cylindromas, trichoepitheliomas, and/or spiradenomas. Brooke-Spiegler syndrome (BSS) is the autosomal dominant predisposition to skin appendageal neoplasms including cylindromas, trichoepitheliomas, ...

Last Updated: 29 Jun 2009

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.