Other Names for this Disease
- Spiegler-Brooke syndrome
- Ancell-Spiegler cylindromas
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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.Brooke-Spiegler syndrome is a condition characterized by multiple skin
Last updated: 2/18/2015
- Brooke-Spiegler syndrome. Genetics Home Reference (GHR). June 2012; http://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome. Accessed 7/12/2013.
- Rare Skin Cancer Syndromes. National Cancer Institute (NCI). May 2013; http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page5. Accessed 7/12/2012.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Brooke-Spiegler syndrome. Click on the link to view a sample search on this topic.