Cowden syndrome
Cowden syndrome, also known as Cowden disease, is constellation of findings due to a PTEN gene mutation.
Molecular
- PTEN mutation.
- Autosomal dominant inheritance.[1]
Trivia
- The PTEN gene is located on chromosome ten.
Clinical
Features:[2]
- Hamartomatous polyps.
- Facial trichilemmomas - hair follicle root sheath epithelium tumour.
- Oral papillomas.
- Acral keratoses (peripheral keratoses).
Lame mnemonic PATH:[3]
- Papilloma (oral).
- Acral keratosis.
- Trichilemmoma.
- Hamartoma.
Cancer
Strong association with cancer:[4]
- ~90% lifetime risk for cancer.
- Specific types of cancer (lifetime risk):
- ~80% breast cancer (in females).
- ~20% thyroid cancer.
- ~20% endometrial cancer.
- ~15% renal cancer.
- ~15% colorectal cancer.
Microscopic
Features:
- Hamartomatous polyp - features non-specific. (???)
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158350
- ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 858-9. ISBN 0-7216-0187-1.
- ↑ URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 6 December 2011.
- ↑ Riegert-Johnson, DL.; Gleeson, FC.; Roberts, M.; Tholen, K.; Youngborg, L.; Bullock, M.; Boardman, LA. (2010). "Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.". Hered Cancer Clin Pract 8 (1): 6. doi:10.1186/1897-4287-8-6. PMC 2904729. PMID 20565722. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904729/.