Cowden Syndrome
A Guide for patients and their families
Common Characteristics of Cowden Syndrome
Sarah Burton, UI Health Care
Joy Larsen Haidle, MS, CGC, UI Health Care
Heather Hampel, MS, CGC, Ohio State University
Charis Eng, MD, PhD, Ohio State University
Peer Review Status: Internally reviewed by the
authors
First Published:
Last Revised: April 2002
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TABLE 1.
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Class
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Feature
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Incidence
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Mucocutaneous lesions
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Trichilemmomas
Acral keratoses
Verucoid or papillomatous papules
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90-100%
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Motor Skills
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Motor Delay, Speech Delay, and/or Mild Developmental
Delay
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25%
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Head and Face
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Macrocephaly with normally sized ventricles
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38%
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Thyroid problems
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Goiter
Adenoma
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50-67%
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Breast Problems (females)
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Fibroadenomas
Fibrocystic disease
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76%
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Intestine
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Ileal and colonic hamartomatous polyps
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40%
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Genito-urinary problems (females)
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Uterine leiomyoma (multiple and early onset)
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44%
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Tumor Risks
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Lipomas
Hemangiomas
Thyroid Cancer
Breast Cancer
Endometrial Cancer
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75%
10-40%
3-10%
25-50%
6-8%
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* Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba
syndrome. Am J Med Gent 1992:44:307-314
* Jones, Kenneth Lynons, Smith's Recognizable Patterns of Human
Malformation. 5th Ed., WB Sanders Co. 1997: 552-523
* Eng, C, Parsons, R. 1998. Cowden Syndrome In: Vogelstein, B and
Kinzler, KW editors. The Genetic Basis of Human Cancer. New York:
McGraw-Hill. p 519-525.
Title Page
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