Cowden Syndrome
A Guide for patients and their families
What is 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
Cowden syndrome is a poorly recognized and thus
under-diagnosed condition characterized by multiple hamartomas and a
risk of breast, thyroid, and uterine neoplasias (both benign and
malignant). The most consistent features of CS, occurring in 99
percent of individuals with this clinical diagnosis, are found on the
skin. These are small flesh-colored bumps on the skin
involving a hair follicle (trichilemmomas) and small wart-like
growths (papillomatous papules). Less commonly, CS is associated with
a large head size (macrocephaly), benign fatty tumors (lipomas), and
blood vessel changes (hemangiomas). The frequency of hamartomatous
polyps of the small and large intestine is unknown, but is thought to
occur in fewer than 40 percent of CS individuals. What is known is
that CS hamartomatous polyps are rarely symptomatic. Please see
Diagram 1.
There is no clinical data that tells us when
the features begin to appear in CS. However, we do know that more
than 90 percent of individuals with CS have some features by the age
of 20.
Patients diagnosed with Cowden syndrome do not
necessarily have all the same features. For example, 99 percent of
individuals with CS have some skin feature, 75 percent have a
breast-related problem, but only 25 to 38 percent have a large head
(macrocephaly). Table 1 lists the features that have been associated
with Cowden syndrome and the approximate percentage of people that
develop each feature (incidence).
Diagram 1. This diagram shows the organs of
the gastrointestinal tract
that may be affected in Cowden syndrome.
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