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%

*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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