Other Names for this Disease
- Ancell-Spiegler cylindromas
- Spiegler-Brooke syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Brooke-Spiegler syndrome. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Brooke-Spiegler syndrome. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public. Click on the link to view information on this topic.
- 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.