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Pilomatrixoma
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Overview
A pilomatrixoma is a benign (non-cancerous) skin tumor that typically occurs in the head and neck area.[1] The tumor usually does not cause any symptoms, but it can be associated with pain. A pilomatrixoma often occurs during childhood but has been reported in individuals of all ages. It may be caused by a change (mutation) in the CTNNB1 gene. Pilomatrixomas have been reported to occur in multiple members of a family, although the pattern of inheritance has not been confirmed. Familial cases have been observed but the mode of inheritance has not been confirmed. Treatment focuses on surgical removal of the tumor. Pilomatrixomas usually occur in the absence of another condition but have been associated with some conditions including Gardner syndrome, myotonic dystrophy (especially when multiple pilomatrixomas are present), and sarcoidosis. A few cases of malignant (cancerous) pilomatrixoma have been reported.[2]
References
- Victor A. McKusick. Pilomatrixoma. OMIM. http://www.ncbi.nlm.nih.gov/omim/132600. Accessed November 29, 2010.
- Suzy Duflo, Richard Nicollas, Stéphane Roman, Guy Magalon, Jean Michel Triglia. Pilomatrixoma of the Head and Neck in Children: A Study of 38 Cases and a Review of the Literature. Archives of Otolaryngology- Head and Neck Surgery. November 1998. http://archotol.ama-assn.org/cgi/content/full/124/11/1239. Accessed November 29, 2010.
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General Information
- Genetics Home Reference (GHR) contains information on Pilomatrixoma. Click on the link to go to GHR and review the information.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Pilomatrixoma. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pilomatrixoma. Click on the link to go to OMIM and review these resources.