Cowden Syndrome
A Guide for patients and their families
How is Cowden Syndrome Diagnosed?
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
Physicians diagnose Cowden syndrome using
a combination of criteria. The most commonly used criteria were
established by the International Cowden Syndrome Consortium. The
consortium grouped the various features of these syndromes into three
categories: the pathognomonic criteria, the major criteria, and the
minor criteria. Pathognomonic criteria are the most typical
features of a condition. The major and minor criteria consist of
related features that are not as specific. The categories help to
define when a patient really has this condition instead of something
that may have similar features. Your doctor, or a genetic specialist,
can look at the features you have and compare them to this outline of
diagnostic criteria when deciding if CS is a likely
possibility.An individual does not need to have all the
features in every category to be diagnosed with CS, nor does someone
necessarily have CS when they have only one feature from any or all
of the categories. When making this diagnosis, it is more important
to look at the overall picture and the combined list of features an
individual experiences over time.The Category Breakdown:
Pathognomonic criteria
Mucocutaneous lesions
Facial trichilemmonas
Acral keratoses
Papillomatous lesions
Mucosal lesions
Major criteria
Breast cancer
Thyroid cancer
Macrocephaly
Lhermitte-Duclos disease
Endometrial carcinomas
Minor criteria
Other thyroid diseases
Mental retardation
Gastrointestinal hamartomas and tumors
Fibrocystic Breast Disease
Lipomas
Fibromas
* International Cowden's Syndrome
Consortium. Operational Criteria for the Diagnosis of CS. Daly, M.
NCCN practice guidelines: Genetics/familial high-risk cancer
screening. Oncology 1999:13:161-86
* Eng, C., Peacocke M. PTEN and inherited hamartoma cancer syndromes.
Nat Genet 1998: 19-233
* Eng C. Will the real Cowden syndrome please stand up: revised
diagnostic criteria. J Med Genet 2000:37:828-830
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