Common Characteristics of Cowden Syndrome
Table 1: Common Characteristics of Cowden Syndrome
Class
|
Feature
|
Incidence
|
Skin and mouth lesions
|
Trichilemmomas
Acral keratoses
Papillomatous papules
|
90-100%
|
Head
|
Macrocephaly
|
80%
|
Development
|
Mental retardation/developmental delay
|
15-20%
|
Thyroid problems
|
Goiter
Adenomas, nodules
|
40-60%
|
Breast Problems (females)
|
Fibroadenomas
Fibrocystic disease
|
40%
|
Gastrointestinal
|
Hamartomatous polyps, ganglioneuromas
|
80%
|
Gynecologic problems
|
Uterine fibroids (multiple and early onset)
|
25%
|
Other benign growths
|
Lipomas
Hemangiomas
|
40-50%
10-40%
|
Cancer
|
Thyroid Cancer
Breast Cancer
Endometrial Cancer
|
3-10%
25-50%
6-8%
|
Source:* Heald, B, Mester, J., Rybicki, L., Orloff, M.S., Burke, C.A, and Eng, C. Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in Prospective Series of PTEN Mutation Carriers. Gastroenterology, epub 27 Jun 2010.
* Pilarski, R. Cowden syndrome: a Critical Review of the Clinical Literature. J Genet Counsel 2009;18:13-27.
* Pilarski, R., Stephens, J., Noss, R., Fisher J.L. and Prior, T (2011). Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome clinical features.
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